Cyb5r3 Variant Search Result - Rat Genome Database

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229 records found for search term Cyb5r3

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150484680	CV1273901	single nucleotide variant	NM_000398.7(CYB5R3):c.*63A>G	not provided [RCV001698548]	benign	22	42619710	42619710	Human		name
150455073	CV1261094	single nucleotide variant	NM_000398.7(CYB5R3):c.*287C>A	not provided [RCV001681292]	benign	22	42619486	42619486	Human		name
156211705	CV1983432	single nucleotide variant	NM_000398.7(CYB5R3):c.22-7G>A	not provided [RCV002626101]	likely benign	22	42636853	42636853	Human		name
405117321	CV3130947	single nucleotide variant	NM_000398.7(CYB5R3):c.22-8C>T	not provided [RCV003837003]	likely benign	22	42636854	42636854	Human		name
617149880	CV4021291	single nucleotide variant	NM_000398.7(CYB5R3):c.21+7G>A	not provided [RCV005425260]	uncertain significance	22	42649288	42649288	Human		name
41405541	CV982256	single nucleotide variant	NM_000398.7(CYB5R3):c.21+6C>T	CYB5R3-related disorder [RCV004754721]\|not provided [RCV001813054]	benign	22	42649289	42649289	Human	1	name , trait , alternate_id
151794243	CV1504187	single nucleotide variant	NM_000398.7(CYB5R3):c.547+1G>A	Deficiency of cytochrome-b5 reductase [RCV003485758]\|not provided [RCV002010977]	likely pathogenic	22	42627604	42627604	Human	1	name
8555520	CV15277	single nucleotide variant	NM_000398.7(CYB5R3):c.734-1G>T	METHEMOGLOBINEMIA, TYPE II [RCV000000262]	pathogenic	22	42619946	42619946	Human	1	name
8555521	CV15278	single nucleotide variant	NM_000398.7(CYB5R3):c.463+8G>C	METHEMOGLOBINEMIA, TYPE II [RCV000000263]	pathogenic	22	42628144	42628144	Human	1	name
8555527	CV15284	single nucleotide variant	NM_000398.7(CYB5R3):c.464-2A>C	Deficiency of cytochrome-b5 reductase [RCV000986216]\|METHEMOGLOBINEMIA, TYPE II [RCV000000269]\|not provided [RCV001390260]	pathogenic\|likely pathogenic	22	42627690	42627690	Human	1	name
156437259	CV1937394	single nucleotide variant	NM_000398.7(CYB5R3):c.463+7C>T	not provided [RCV003106790]	likely benign	22	42628145	42628145	Human		name
156332162	CV1954178	single nucleotide variant	NM_000398.7(CYB5R3):c.226+9C>T	CYB5R3-related disorder [RCV003903718]\|not provided [RCV002580060]	likely benign	22	42631369	42631369	Human	1	name , trait , alternate_id
156363472	CV2016866	single nucleotide variant	NM_000398.7(CYB5R3):c.634-4G>A	not provided [RCV002721027]	likely benign	22	42623892	42623892	Human		name
156383730	CV2220178	single nucleotide variant	NM_000398.7(CYB5R3):c.333+5A>G	Inborn genetic diseases [RCV002723062]	uncertain significance	22	42630877	42630877	Human	1	name
11544188	CV257695	single nucleotide variant	NM_000398.7(CYB5R3):c.22-18C>A	not provided [RCV001610573]\|not specified [RCV000243449]	benign	22	42636864	42636864	Human		name
405230650	CV3153914	single nucleotide variant	NM_000398.7(CYB5R3):c.22-20C>T	not provided [RCV003848782]	likely benign	22	42636866	42636866	Human		name
597898376	CV3740817	single nucleotide variant	NM_000398.7(CYB5R3):c.464-9T>C	not provided [RCV005071980]	likely benign	22	42627697	42627697	Human		name
597844993	CV3827550	single nucleotide variant	NM_000398.7(CYB5R3):c.734-5C>T	not provided [RCV005172821]	likely benign	22	42619950	42619950	Human		name
15150375	CV731431	single nucleotide variant	NM_000398.7(CYB5R3):c.734-8C>T	not provided [RCV000879367]	likely benign	22	42619953	42619953	Human		name
15155123	CV731432	single nucleotide variant	NM_000398.7(CYB5R3):c.547+7G>A	CYB5R3-related disorder [RCV003940404]\|not provided [RCV000880356]	likely benign	22	42627598	42627598	Human	1	name , trait , alternate_id
15198113	CV760985	single nucleotide variant	NM_000398.7(CYB5R3):c.463+8G>A	not provided [RCV000912162]	likely benign	22	42628144	42628144	Human		name
15143857	CV788366	single nucleotide variant	NM_000398.7(CYB5R3):c.153+9C>T	not provided [RCV000983396]	likely benign	22	42636706	42636706	Human		name
21070278	CV789808	single nucleotide variant	NM_000398.7(CYB5R3):c.226+2T>C	Deficiency of cytochrome-b5 reductase [RCV000986217]	pathogenic	22	42631376	42631376	Human	1	name
150508938	CV1214172	single nucleotide variant	NM_000398.7(CYB5R3):c.226+28C>T	not provided [RCV001596693]	benign	22	42631350	42631350	Human		name
150458694	CV1248975	single nucleotide variant	NM_000398.7(CYB5R3):c.547+84C>T	not provided [RCV001669152]	benign	22	42627521	42627521	Human		name
150442768	CV1264489	single nucleotide variant	NM_000398.7(CYB5R3):c.547+76T>C	not provided [RCV001679472]	benign	22	42627529	42627529	Human		name
150483568	CV1280235	single nucleotide variant	NM_000398.7(CYB5R3):c.333+96T>C	not provided [RCV001715209]	benign	22	42630786	42630786	Human		name
151351149	CV1321068	single nucleotide variant	NM_000398.7(CYB5R3):c.463+13G>A	not provided [RCV001810759]	benign\|likely benign	22	42628139	42628139	Human		name
156153044	CV1961192	single nucleotide variant	NM_000398.7(CYB5R3):c.153+20G>A	not provided [RCV002572961]	likely benign	22	42636695	42636695	Human		name
156354458	CV1962274	single nucleotide variant	NM_000398.7(CYB5R3):c.464-18C>G	not provided [RCV002581293]	likely benign	22	42627706	42627706	Human		name
156356201	CV1962422	single nucleotide variant	NM_000398.7(CYB5R3):c.548-17G>A	not provided [RCV002581407]	likely benign\|uncertain significance	22	42627406	42627406	Human		name
156152329	CV1967494	single nucleotide variant	NM_000398.7(CYB5R3):c.547+12C>A	not provided [RCV002594185]	likely benign	22	42627593	42627593	Human		name
156411820	CV1973735	single nucleotide variant	NM_000398.7(CYB5R3):c.153+10G>A	not provided [RCV002608362]	likely benign	22	42636705	42636705	Human		name
156049260	CV1974298	single nucleotide variant	NM_000398.7(CYB5R3):c.334-16C>T	not provided [RCV002590603]	likely benign	22	42628297	42628297	Human		name
156203195	CV1978524	single nucleotide variant	NM_000398.7(CYB5R3):c.633+17A>G	not provided [RCV002625801]	likely benign	22	42627287	42627287	Human		name
156159124	CV1984300	single nucleotide variant	NM_000398.7(CYB5R3):c.547+18C>T	not provided [RCV002642338]	likely benign	22	42627587	42627587	Human		name
156403276	CV1993170	single nucleotide variant	NM_000398.7(CYB5R3):c.634-19C>T	not provided [RCV002657819]	likely benign	22	42623907	42623907	Human		name
156379244	CV1997647	single nucleotide variant	NM_000398.7(CYB5R3):c.548-12G>T	not provided [RCV002653543]	uncertain significance	22	42627401	42627401	Human		name
156034152	CV2047447	single nucleotide variant	NM_000398.7(CYB5R3):c.334-15G>A	not provided [RCV002781234]	benign\|conflicting interpretations of pathogenicity	22	42628296	42628296	Human		name
155973608	CV2079368	single nucleotide variant	NM_000398.7(CYB5R3):c.227-14G>A	not provided [RCV002881601]	likely benign	22	42631002	42631002	Human		name
156166558	CV2184757	single nucleotide variant	NM_000398.7(CYB5R3):c.463+20C>G	not provided [RCV003057089]	likely benign	22	42628132	42628132	Human		name
405021920	CV2992772	single nucleotide variant	NM_000398.7(CYB5R3):c.334-13G>C	not provided [RCV003694859]	likely benign	22	42628294	42628294	Human		name
405008619	CV3118320	single nucleotide variant	NM_000398.7(CYB5R3):c.153+16C>T	not provided [RCV003828750]	likely benign	22	42636699	42636699	Human		name
404990520	CV3131916	single nucleotide variant	NM_000398.7(CYB5R3):c.464-19A>G	not provided [RCV003827044]	likely benign	22	42627707	42627707	Human		name
405105195	CV3139846	single nucleotide variant	NM_000398.7(CYB5R3):c.633+15C>T	not provided [RCV003835257]	benign	22	42627289	42627289	Human		name
405219008	CV3154200	single nucleotide variant	NM_000398.7(CYB5R3):c.547+15C>T	not provided [RCV003846892]	likely benign	22	42627590	42627590	Human		name
597836477	CV3739804	single nucleotide variant	NM_000398.7(CYB5R3):c.153+13C>T	not provided [RCV005064024]	likely benign	22	42636702	42636702	Human		name
597849881	CV3746746	single nucleotide variant	NM_000398.7(CYB5R3):c.548-13G>C	not provided [RCV005066143]	likely benign	22	42627402	42627402	Human		name
597946351	CV3755570	single nucleotide variant	NM_000398.7(CYB5R3):c.548-14C>T	not provided [RCV005078580]	likely benign	22	42627403	42627403	Human		name
597949713	CV3814752	single nucleotide variant	NM_000398.7(CYB5R3):c.733+16C>G	not provided [RCV005160893]	likely benign	22	42623773	42623773	Human		name
41405620	CV982253	single nucleotide variant	NM_000398.7(CYB5R3):c.548-13G>A	not provided [RCV001813094]	uncertain significance	22	42627402	42627402	Human		name
126737368	CV1022117	duplication	NM_000398.7(CYB5R3):c.22-3269dup	Deficiency of cytochrome-b5 reductase [RCV001335290]	pathogenic	22	42640108	42640109	Human		name
150331944	CV1173502	single nucleotide variant	NM_000398.7(CYB5R3):c.334-123G>A	not provided [RCV001538841]	benign	22	42628404	42628404	Human	1	name
150331944	CV1173502	single nucleotide variant	NM_000398.7(CYB5R3):c.334-123G>A	not provided [RCV001538841]	benign	22	42628404	42628405	Human	1	name
150506403	CV1226338	single nucleotide variant	NM_000398.7(CYB5R3):c.733+259T>C	not provided [RCV001635706]	benign	22	42623530	42623530	Human		name
150516515	CV1227102	single nucleotide variant	NM_000398.7(CYB5R3):c.634-275G>A	not provided [RCV001639200]	benign	22	42624163	42624163	Human		name
150434209	CV1230732	single nucleotide variant	NM_000398.7(CYB5R3):c.21+5219T>C	not provided [RCV001643678]	benign	22	42644076	42644076	Human		name
150430927	CV1231097	single nucleotide variant	NM_000398.7(CYB5R3):c.21+4508C>T	not provided [RCV001641646]	benign	22	42644787	42644787	Human		name
150451197	CV1232768	single nucleotide variant	NM_000398.7(CYB5R3):c.333+272G>A	not provided [RCV001647843]	benign	22	42630610	42630610	Human		name
150431036	CV1235313	single nucleotide variant	NM_000398.7(CYB5R3):c.733+233A>G	not provided [RCV001641683]	benign	22	42623556	42623556	Human		name
150441556	CV1246753	single nucleotide variant	NM_000398.7(CYB5R3):c.733+163G>T	not provided [RCV001666407]	benign	22	42623626	42623626	Human		name
150438915	CV1247646	single nucleotide variant	NM_000398.7(CYB5R3):c.153+233C>G	not provided [RCV001666013]	benign	22	42636482	42636482	Human		name
150463991	CV1252602	single nucleotide variant	NM_000398.7(CYB5R3):c.333+198C>T	not provided [RCV001669926]	benign	22	42630684	42630684	Human		name
150459840	CV1253011	single nucleotide variant	NM_000398.7(CYB5R3):c.463+178C>T	not provided [RCV001669339]	benign	22	42627974	42627974	Human		name
150505930	CV1254743	single nucleotide variant	NM_000398.7(CYB5R3):c.21+4661G>A	not provided [RCV001678048]	benign	22	42644634	42644634	Human		name
150507552	CV1256962	single nucleotide variant	NM_000398.7(CYB5R3):c.634-273G>A	not provided [RCV001678465]	benign	22	42624161	42624161	Human		name
150479136	CV1258206	single nucleotide variant	NM_000398.7(CYB5R3):c.154-174G>A	not provided [RCV001685622]	benign	22	42631624	42631624	Human		name
150475234	CV1263473	single nucleotide variant	NM_000398.7(CYB5R3):c.21+4494G>A	not provided [RCV001684996]	benign	22	42644801	42644801	Human		name
150440833	CV1265464	single nucleotide variant	NM_000398.7(CYB5R3):c.21+4428C>T	not provided [RCV001679167]	benign	22	42644867	42644867	Human		name
150447619	CV1270337	single nucleotide variant	NM_000398.7(CYB5R3):c.21+4462G>A	not provided [RCV001691474]	benign	22	42644833	42644833	Human		name
150460478	CV1275827	single nucleotide variant	NM_000398.7(CYB5R3):c.463+219C>A	not provided [RCV001709765]	benign	22	42627933	42627933	Human		name
150458173	CV1278730	single nucleotide variant	NM_000398.7(CYB5R3):c.21+4380G>A	not provided [RCV001709347]	benign	22	42644915	42644915	Human		name
150491495	CV1280422	single nucleotide variant	NM_000398.7(CYB5R3):c.21+4998G>T	not provided [RCV001716650]	benign	22	42644297	42644297	Human		name
151352539	CV1321574	single nucleotide variant	NM_000398.7(CYB5R3):c.21+4910G>C	not provided [RCV001811943]	uncertain significance	22	42644385	42644385	Human		name
405238664	CV3081278	single nucleotide variant	NM_000398.7(CYB5R3):c.21+4921G>C	not provided [RCV003736388]	likely benign	22	42644374	42644374	Human		name
41407448	CV982254	single nucleotide variant	NM_000398.7(CYB5R3):c.21+4867C>G	not provided [RCV001698677]	benign	22	42644428	42644428	Human		name
41405097	CV982255	single nucleotide variant	NM_000398.7(CYB5R3):c.21+4827C>T	not provided [RCV001812390]	benign	22	42644468	42644468	Human		name
405289939	CV3205799	duplication	NM_000398.7(CYB5R3):c.333+2_333+3dup	CYB5R3-related disorder [RCV003962093]	likely benign	22	42630878	42630879	Human		name , trait , alternate_id
155266234	CV1699677	deletion	NM_000398.7(CYB5R3):c.7del (p.Ala3fs)	not specified [RCV002281778]	uncertain significance	22	42649309	42649309	Human		name
156165320	CV2019680	single nucleotide variant	NM_000398.7(CYB5R3):c.69C>T (p.Leu23=)	not provided [RCV002710320]	likely benign	22	42636799	42636799	Human		name
243057186	CV2415016	single nucleotide variant	NM_000398.7(CYB5R3):c.1A>G (p.Met1Val)	Deficiency of cytochrome-b5 reductase [RCV003145958]\|not provided [RCV003778858]	uncertain significance	22	42649315	42649315	Human	1	name
15169280	CV742956	single nucleotide variant	NM_000398.7(CYB5R3):c.66G>A (p.Leu22=)	not provided [RCV000905026]	likely benign	22	42636802	42636802	Human		name
15130939	CV742957	single nucleotide variant	NM_000398.7(CYB5R3):c.45A>G (p.Pro15=)	not provided [RCV000897687]	benign\|likely benign	22	42636823	42636823	Human		name
152164026	CV1662560	single nucleotide variant	NM_000398.7(CYB5R3):c.117G>T (p.Pro39=)	not provided [RCV002141436]	likely benign	22	42636751	42636751	Human		name
156316988	CV1901294	single nucleotide variant	NM_000398.7(CYB5R3):c.144C>T (p.Ile48=)	not provided [RCV002579005]	likely benign	22	42636724	42636724	Human		name
156212161	CV1955806	single nucleotide variant	NM_000398.7(CYB5R3):c.136C>A (p.Arg46=)	not provided [RCV002575192]	likely benign	22	42636732	42636732	Human		name
156076137	CV2025565	single nucleotide variant	NM_000398.7(CYB5R3):c.10C>T (p.Gln4Ter)	not provided [RCV002760474]	pathogenic	22	42649306	42649306	Human		name
11550375	CV257694	single nucleotide variant	NM_000398.7(CYB5R3):c.132G>A (p.Pro44=)	not provided [RCV001689793]\|not specified [RCV000251674]	benign	22	42636736	42636736	Human		name
404977286	CV2849942	single nucleotide variant	NM_000398.7(CYB5R3):c.16A>G (p.Ser6Gly)	Deficiency of cytochrome-b5 reductase [RCV003486052]	uncertain significance	22	42649300	42649300	Human	1	name
405248276	CV2977778	single nucleotide variant	NM_000398.7(CYB5R3):c.159C>T (p.Ile53=)	not provided [RCV003721055]	likely benign	22	42631445	42631445	Human		name
597973513	CV3820526	single nucleotide variant	NM_000398.7(CYB5R3):c.243C>T (p.Leu81=)	not provided [RCV005168043]	likely benign	22	42630972	42630972	Human		name
597969980	CV3832107	single nucleotide variant	NM_000398.7(CYB5R3):c.201C>G (p.Pro67=)	not provided [RCV005166363]	likely benign	22	42631403	42631403	Human		name
15189892	CV729232	single nucleotide variant	NM_000398.7(CYB5R3):c.297C>T (p.Ser99=)	not provided [RCV000887950]	benign	22	42630918	42630918	Human		name
15154552	CV729233	single nucleotide variant	NM_000398.7(CYB5R3):c.120C>T (p.Asp40=)	not provided [RCV000880238]	likely benign	22	42636748	42636748	Human		name
15143232	CV742955	single nucleotide variant	NM_000398.7(CYB5R3):c.117G>A (p.Pro39=)	not provided [RCV000899804]	likely benign	22	42636751	42636751	Human		name
15138295	CV786613	single nucleotide variant	NM_000398.7(CYB5R3):c.171C>T (p.Thr57=)	not provided [RCV000982448]	likely benign	22	42631433	42631433	Human		name
8628698	CV83842	single nucleotide variant	NM_000398.6(CYB5R3):c.270C>T (p.Val90=)	Malignant melanoma [RCV000063923]	not provided	22	42630945	42630945	Human		name
150545565	CV1293855	single nucleotide variant	NM_000398.7(CYB5R3):c.89C>T (p.Ser30Phe)	Deficiency of cytochrome-b5 reductase [RCV002477930]\|not provided [RCV001763036]	uncertain significance	22	42636779	42636779	Human	1	name
151352582	CV1321642	single nucleotide variant	NM_000398.7(CYB5R3):c.903C>T (p.Phe301=)	not provided [RCV001812539]	likely benign	22	42619776	42619776	Human		name
152110221	CV1530188	single nucleotide variant	NM_000398.7(CYB5R3):c.726C>T (p.Ala242=)	not provided [RCV002196669]	likely benign	22	42623796	42623796	Human		name
156093628	CV1895755	single nucleotide variant	NM_000398.7(CYB5R3):c.870C>T (p.His290=)	CYB5R3-related disorder [RCV003936549]\|not provided [RCV003080318]	likely benign	22	42619809	42619809	Human	1	name , trait , alternate_id
156209781	CV1909675	single nucleotide variant	NM_000398.7(CYB5R3):c.744C>T (p.Tyr248=)	not provided [RCV002596019]	likely benign	22	42619935	42619935	Human		name
156031242	CV1910823	single nucleotide variant	NM_000398.7(CYB5R3):c.63T>A (p.Ser21Arg)	Deficiency of cytochrome-b5 reductase [RCV003143510]\|Inborn genetic diseases [RCV002632612]\|not provided [RCV002619862]	uncertain significance	22	42636805	42636805	Human	2	name
155938963	CV2075254	single nucleotide variant	NM_000398.7(CYB5R3):c.435C>T (p.Pro145=)	not provided [RCV002861641]	likely benign	22	42628180	42628180	Human		name
155955391	CV2274451	single nucleotide variant	NM_000398.7(CYB5R3):c.33G>A (p.Met11Ile)	Inborn genetic diseases [RCV002840782]	uncertain significance	22	42636835	42636835	Human	1	name
405231869	CV3070900	single nucleotide variant	NM_000398.7(CYB5R3):c.351C>T (p.Thr117=)	not provided [RCV003735044]	likely benign	22	42628264	42628264	Human		name
405047076	CV3071753	single nucleotide variant	NM_000398.7(CYB5R3):c.846C>T (p.Tyr282=)	not provided [RCV003740332]	benign	22	42619833	42619833	Human		name
402508688	CV3177846	single nucleotide variant	NM_000398.7(CYB5R3):c.807G>A (p.Pro269=)	not provided [RCV003878642]	likely benign	22	42619872	42619872	Human		name
407452197	CV3420026	single nucleotide variant	NM_000398.7(CYB5R3):c.28C>T (p.His10Tyr)	Inborn genetic diseases [RCV004608375]	uncertain significance	22	42636840	42636840	Human	1	name
597672150	CV3657991	single nucleotide variant	NM_000398.7(CYB5R3):c.59A>G (p.Tyr20Cys)	Inborn genetic diseases [RCV004981412]	uncertain significance	22	42636809	42636809	Human	1	name
597845056	CV3761508	single nucleotide variant	NM_000398.7(CYB5R3):c.366C>T (p.Pro122=)	not provided [RCV005087108]	likely benign	22	42628249	42628249	Human		name
597960611	CV3794701	single nucleotide variant	NM_000398.7(CYB5R3):c.792C>G (p.Pro264=)	not provided [RCV005138606]	likely benign	22	42619887	42619887	Human		name
597857754	CV3816784	single nucleotide variant	NM_000398.7(CYB5R3):c.759G>A (p.Val253=)	not provided [RCV005146357]	likely benign	22	42619920	42619920	Human		name
15104474	CV705971	single nucleotide variant	NM_000398.7(CYB5R3):c.432C>T (p.Gly144=)	not provided [RCV000959694]	benign\|likely benign	22	42628183	42628183	Human		name
15156840	CV729231	single nucleotide variant	NM_000398.7(CYB5R3):c.564G>A (p.Leu188=)	not provided [RCV000880709]	likely benign	22	42627373	42627373	Human		name
15123495	CV742954	single nucleotide variant	NM_000398.7(CYB5R3):c.558G>A (p.Pro186=)	not provided [RCV000896422]	likely benign	22	42627379	42627379	Human		name
15122020	CV742958	single nucleotide variant	NM_000398.7(CYB5R3):c.31A>G (p.Met11Val)	not provided [RCV000896169]	likely benign	22	42636837	42636837	Human		name
15103322	CV758123	single nucleotide variant	NM_000398.7(CYB5R3):c.537G>A (p.Ala179=)	not provided [RCV000915138]	benign\|likely benign	22	42627615	42627615	Human		name
15129916	CV758124	single nucleotide variant	NM_000398.7(CYB5R3):c.471C>T (p.Phe157=)	CYB5R3-related disorder [RCV003942833]\|not provided [RCV000919913]	benign\|likely benign	22	42627681	42627681	Human	1	name , trait , alternate_id
15180713	CV773582	single nucleotide variant	NM_000398.7(CYB5R3):c.756C>T (p.Phe252=)	not provided [RCV000929954]	likely benign	22	42619923	42619923	Human		name
15193502	CV773583	single nucleotide variant	NM_000398.7(CYB5R3):c.351C>G (p.Thr117=)	not provided [RCV000933382]	likely benign	22	42628264	42628264	Human		name
126737377	CV1022116	single nucleotide variant	NM_000398.7(CYB5R3):c.226G>A (p.Gly76Ser)	Deficiency of cytochrome-b5 reductase [RCV001335291]	pathogenic	22	42631378	42631378	Human		name
127287861	CV1163230	duplication	NM_000398.7(CYB5R3):c.830dup (p.Pro278fs)	Deficiency of cytochrome-b5 reductase [RCV001527675]\|not provided [RCV004794541]	pathogenic\|likely pathogenic	22	42619848	42619849	Human	1	name
151763358	CV1471624	deletion	NM_000398.7(CYB5R3):c.706del (p.Trp236fs)	not provided [RCV001949405]	pathogenic	22	42623816	42623816	Human		name
8555517	CV15274	single nucleotide variant	NM_000398.7(CYB5R3):c.173G>A (p.Arg58Gln)	CYB5R3-related disorder [RCV003415596]\|METHEMOGLOBINEMIA, TYPE I [RCV000000259]\|not provided [RCV002512600]	pathogenic\|likely pathogenic	22	42631431	42631431	Human	1	name , trait , alternate_id
8555528	CV15285	single nucleotide variant	NM_000398.7(CYB5R3):c.218T>C (p.Leu73Pro)	METHEMOGLOBINEMIA, TYPE I [RCV000000270]	pathogenic	22	42631386	42631386	Human	1	name
8555529	CV15286	single nucleotide variant	NM_000398.7(CYB5R3):c.229C>T (p.Gln77Ter)	METHEMOGLOBINEMIA, TYPE II [RCV000000271]\|not provided [RCV004700173]	pathogenic	22	42630986	42630986	Human	1	name
156183420	CV1868610	single nucleotide variant	NM_000398.7(CYB5R3):c.176G>A (p.Arg59His)	not provided [RCV003041418]	uncertain significance	22	42631428	42631428	Human		name
156362012	CV1900621	single nucleotide variant	NM_000398.7(CYB5R3):c.116C>G (p.Pro39Arg)	not provided [RCV002581790]	uncertain significance	22	42636752	42636752	Human		name
155951464	CV2014015	single nucleotide variant	NM_000398.7(CYB5R3):c.131C>T (p.Pro44Leu)	not provided [RCV002686045]	uncertain significance	22	42636737	42636737	Human		name
156154971	CV2209571	single nucleotide variant	NM_000398.7(CYB5R3):c.194C>G (p.Pro65Arg)	Deficiency of cytochrome-b5 reductase [RCV003143535]\|Inborn genetic diseases [RCV002697884]	uncertain significance	22	42631410	42631410	Human	2	name
155906387	CV2283530	single nucleotide variant	NM_000398.7(CYB5R3):c.161G>A (p.Ser54Asn)	Inborn genetic diseases [RCV002837285]	uncertain significance	22	42631443	42631443	Human	1	name
156173409	CV2355171	single nucleotide variant	NM_000398.7(CYB5R3):c.245C>T (p.Ser82Leu)	Deficiency of cytochrome-b5 reductase [RCV003143563]\|Inborn genetic diseases [RCV002983612]	uncertain significance	22	42630970	42630970	Human	2	name
156436093	CV2403694	single nucleotide variant	NM_000398.7(CYB5R3):c.274C>T (p.Arg92Trp)	Deficiency of cytochrome-b5 reductase [RCV003128217]	likely pathogenic	22	42630941	42630941	Human	1	name
243057187	CV2415017	single nucleotide variant	NM_000398.7(CYB5R3):c.130C>T (p.Pro44Ser)	Deficiency of cytochrome-b5 reductase [RCV003145959]	uncertain significance	22	42636738	42636738	Human	1	name
243057190	CV2415019	single nucleotide variant	NM_000398.7(CYB5R3):c.149G>A (p.Arg50Gln)	Deficiency of cytochrome-b5 reductase [RCV003145961]\|not provided [RCV003561188]	likely pathogenic\|uncertain significance	22	42636719	42636719	Human	1	name
243057193	CV2415021	single nucleotide variant	NM_000398.7(CYB5R3):c.182G>A (p.Arg61His)	Central core myopathy [RCV004813221]\|Deficiency of cytochrome-b5 reductase [RCV003145963]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	22	42631422	42631422	Human	2	name
401879363	CV2773043	single nucleotide variant	NM_000398.7(CYB5R3):c.164A>G (p.His55Arg)	Inborn genetic diseases [RCV003364280]	uncertain significance	22	42631440	42631440	Human	1	name
405666078	CV3239428	single nucleotide variant	NM_000398.7(CYB5R3):c.235A>G (p.Ile79Val)	Inborn genetic diseases [RCV004367672]	uncertain significance	22	42630980	42630980	Human	1	name
407452193	CV3420024	single nucleotide variant	NM_000398.7(CYB5R3):c.102C>G (p.Ile34Met)	Inborn genetic diseases [RCV004608373]	uncertain significance	22	42636766	42636766	Human	1	name
407574445	CV3499456	single nucleotide variant	NM_000398.7(CYB5R3):c.136C>T (p.Arg46Trp)	not provided [RCV004719450]	uncertain significance	22	42636732	42636732	Human		name
596926889	CV3539901	single nucleotide variant	NM_000398.7(CYB5R3):c.175C>T (p.Arg59Cys)	not provided [RCV004790892]	uncertain significance	22	42631429	42631429	Human		name
597672137	CV3657987	single nucleotide variant	NM_000398.7(CYB5R3):c.116C>T (p.Pro39Leu)	Inborn genetic diseases [RCV004981409]\|not provided [RCV005061692]	uncertain significance	22	42636752	42636752	Human	1	name
597893057	CV3856823	single nucleotide variant	NM_000398.7(CYB5R3):c.254T>A (p.Ile85Asn)	not provided [RCV005200888]	uncertain significance	22	42630961	42630961	Human		name
598216438	CV3895192	single nucleotide variant	NM_000398.7(CYB5R3):c.145G>A (p.Asp49Asn)	Deficiency of cytochrome-b5 reductase [RCV005360102]	uncertain significance	22	42636723	42636723	Human	1	name
13212445	CV426381	single nucleotide variant	NM_000398.7(CYB5R3):c.250C>T (p.Arg84Ter)	not provided [RCV000498827]	pathogenic	22	42630965	42630965	Human		name
21405648	CV800191	single nucleotide variant	NM_000398.7(CYB5R3):c.145G>C (p.Asp49His)	Inborn genetic diseases [RCV002550743]\|not provided [RCV001811586]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	42636723	42636723	Human	1	name
21406344	CV800192	single nucleotide variant	NM_000398.7(CYB5R3):c.137G>A (p.Arg46Gln)	not provided [RCV002551697]\|not specified [RCV001002533]	uncertain significance	22	42636731	42636731	Human		name
25327411	CV815837	single nucleotide variant	NM_000398.7(CYB5R3):c.190C>G (p.Leu64Val)	METHEMOGLOBINEMIA, TYPE I [RCV001027443]	pathogenic	22	42631414	42631414	Human	1	name
25327409	CV815838	single nucleotide variant	NM_000398.7(CYB5R3):c.103A>C (p.Thr35Pro)	METHEMOGLOBINEMIA, TYPE I [RCV001027442]	pathogenic	22	42636765	42636765	Human	1	name
126748849	CV1035224	single nucleotide variant	NM_000398.7(CYB5R3):c.463G>A (p.Gly155Arg)	CYB5R3-related disorder [RCV004754737]\|not provided [RCV001351941]	uncertain significance	22	42628152	42628152	Human	1	name , trait , alternate_id
150552030	CV1302129	single nucleotide variant	NM_000398.7(CYB5R3):c.871G>A (p.Val291Met)	not provided [RCV001767393]	uncertain significance	22	42619808	42619808	Human		name
150540349	CV1314474	single nucleotide variant	NM_000398.7(CYB5R3):c.574C>T (p.Arg192Cys)	CYB5R3-related disorder [RCV003394253]\|Deficiency of cytochrome-b5 reductase [RCV001780904]\|not provided [RCV003546714]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	22	42627363	42627363	Human	1	name , trait , alternate_id
8555516	CV15273	single nucleotide variant	NM_000398.7(CYB5R3):c.382T>C (p.Ser128Pro)	METHEMOGLOBINEMIA, TYPE II [RCV000000258]	pathogenic	22	42628233	42628233	Human	1	name
8555518	CV15275	single nucleotide variant	NM_000398.7(CYB5R3):c.446T>C (p.Leu149Pro)	METHEMOGLOBINEMIA, TYPE I [RCV000000260]	pathogenic	22	42628169	42628169	Human	1	name
8555519	CV15276	single nucleotide variant	NM_000398.7(CYB5R3):c.316G>A (p.Val106Met)	METHEMOGLOBINEMIA, TYPE I [RCV000000261]\|not provided [RCV001851507]	pathogenic\|uncertain significance	22	42630899	42630899	Human	1	name
8555522	CV15279	single nucleotide variant	NM_000398.7(CYB5R3):c.655C>T (p.Arg219Ter)	METHEMOGLOBINEMIA, TYPE II [RCV000000264]	pathogenic	22	42623867	42623867	Human	1	name
8555523	CV15280	single nucleotide variant	NM_000398.7(CYB5R3):c.610T>C (p.Cys204Arg)	METHEMOGLOBINEMIA, TYPE II [RCV000000265]	pathogenic	22	42627327	42627327	Human	1	name
8555526	CV15283	single nucleotide variant	NM_000398.7(CYB5R3):c.350C>G (p.Thr117Ser)	CYB5R3 POLYMORPHISM [RCV000000268]\|not provided [RCV001610285]\|not specified [RCV000249451]	benign	22	42628265	42628265	Human		name , trait
8555530	CV15287	single nucleotide variant	NM_000398.7(CYB5R3):c.478C>T (p.Arg160Ter)	Deficiency of cytochrome-b5 reductase [RCV003485516]\|METHEMOGLOBINEMIA, TYPE II [RCV000000272]\|not provided [RCV000578723]	pathogenic	22	42627674	42627674	Human	1	name
8555531	CV15288	single nucleotide variant	NM_000398.7(CYB5R3):c.611G>A (p.Cys204Tyr)	Hereditary methemoglobinemia [RCV003764501]\|METHEMOGLOBINEMIA, TYPE I [RCV000000273]	pathogenic	22	42627326	42627326	Human	2	name
8555532	CV15289	single nucleotide variant	NM_000398.7(CYB5R3):c.875G>A (p.Gly292Asp)	Deficiency of cytochrome-b5 reductase [RCV003330378]\|METHEMOGLOBINEMIA, TYPE I [RCV000000274]\|not provided [RCV002267795]	pathogenic\|likely pathogenic	22	42619804	42619804	Human	1	name
8555534	CV15291	single nucleotide variant	NM_000398.7(CYB5R3):c.719A>G (p.Asp240Gly)	Deficiency of cytochrome-b5 reductase [RCV002490285]\|METHEMOGLOBINEMIA, TYPE I [RCV000000276]\|not provided [RCV004791183]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	22	42623803	42623803	Human	1	name
152173946	CV1660069	single nucleotide variant	NM_000398.7(CYB5R3):c.637G>A (p.Glu213Lys)	Deficiency of cytochrome-b5 reductase [RCV003485764]\|not provided [RCV002162980]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	42623885	42623885	Human	1	name
153301352	CV1686888	single nucleotide variant	NM_000398.7(CYB5R3):c.708G>A (p.Trp236Ter)	Deficiency of cytochrome-b5 reductase [RCV002262175]\|not provided [RCV005095926]	pathogenic	22	42623814	42623814	Human	1	name
155688816	CV1775049	single nucleotide variant	NM_000398.7(CYB5R3):c.700A>G (p.Lys234Glu)	not provided [RCV002294781]	uncertain significance	22	42623822	42623822	Human		name
155747071	CV1778226	single nucleotide variant	NM_000398.7(CYB5R3):c.507C>G (p.Ile169Met)	not provided [RCV002303579]	uncertain significance	22	42627645	42627645	Human		name
156183346	CV1868608	single nucleotide variant	NM_000398.7(CYB5R3):c.434C>T (p.Pro145Leu)	not provided [RCV003041416]	conflicting interpretations of pathogenicity\|uncertain significance	22	42628181	42628181	Human		name
156183371	CV1868609	single nucleotide variant	NM_000398.7(CYB5R3):c.433C>T (p.Pro145Ser)	not provided [RCV003041417]	uncertain significance	22	42628182	42628182	Human		name
156279330	CV1912077	single nucleotide variant	NM_000398.7(CYB5R3):c.479G>A (p.Arg160Gln)	not provided [RCV002628374]	uncertain significance	22	42627673	42627673	Human		name
156444857	CV1948902	single nucleotide variant	NM_000398.7(CYB5R3):c.577G>A (p.Ala193Thr)	Inborn genetic diseases [RCV003250840]\|not provided [RCV003115787]	uncertain significance	22	42627360	42627360	Human	1	name
156113483	CV1958010	single nucleotide variant	NM_000398.7(CYB5R3):c.304G>A (p.Asp102Asn)	not provided [RCV002592859]	uncertain significance	22	42630911	42630911	Human		name
156207152	CV1959370	single nucleotide variant	NM_000398.7(CYB5R3):c.776G>A (p.Arg259Gln)	not provided [RCV002575004]	uncertain significance	22	42619903	42619903	Human		name
156331568	CV2000599	single nucleotide variant	NM_000398.7(CYB5R3):c.830C>T (p.Pro277Leu)	not provided [RCV002649849]	uncertain significance	22	42619849	42619849	Human		name
156224058	CV2103609	single nucleotide variant	NM_000398.7(CYB5R3):c.408T>G (p.Ile136Met)	Inborn genetic diseases [RCV002918684]\|not provided [RCV002918685]	uncertain significance	22	42628207	42628207	Human	1	name
155942291	CV2115007	single nucleotide variant	NM_000398.7(CYB5R3):c.367G>A (p.Ala123Thr)	Deficiency of cytochrome-b5 reductase [RCV003146673]\|not provided [RCV002904553]	uncertain significance	22	42628248	42628248	Human	1	name
156213249	CV2171025	single nucleotide variant	NM_000398.7(CYB5R3):c.587A>G (p.Lys196Arg)	not provided [RCV003042413]	uncertain significance	22	42627350	42627350	Human		name
156343059	CV2222617	single nucleotide variant	NM_000398.7(CYB5R3):c.482C>G (p.Pro161Arg)	Inborn genetic diseases [RCV002719362]	uncertain significance	22	42627670	42627670	Human	1	name
156313163	CV2256974	single nucleotide variant	NM_000398.7(CYB5R3):c.536C>T (p.Ala179Val)	Inborn genetic diseases [RCV002809222]	uncertain significance	22	42627616	42627616	Human	1	name
156260756	CV2381224	single nucleotide variant	NM_000398.7(CYB5R3):c.436A>G (p.Ser146Gly)	Inborn genetic diseases [RCV002714547]	uncertain significance	22	42628179	42628179	Human	1	name
243057189	CV2415018	single nucleotide variant	NM_000398.7(CYB5R3):c.613C>T (p.His205Tyr)	Deficiency of cytochrome-b5 reductase [RCV003145960]	uncertain significance	22	42627324	42627324	Human	1	name
243057191	CV2415020	single nucleotide variant	NM_000398.7(CYB5R3):c.503T>C (p.Ile168Thr)	Deficiency of cytochrome-b5 reductase [RCV003145962]	uncertain significance	22	42627649	42627649	Human	1	name
243057194	CV2415022	single nucleotide variant	NM_000398.7(CYB5R3):c.796G>C (p.Glu266Gln)	Deficiency of cytochrome-b5 reductase [RCV003145964]	uncertain significance	22	42619883	42619883	Human	1	name
329398089	CV2466685	single nucleotide variant	NM_000398.7(CYB5R3):c.643G>A (p.Asp215Asn)	Inborn genetic diseases [RCV003195918]	uncertain significance	22	42623879	42623879	Human	1	name
11525845	CV247190	single nucleotide variant	NM_000398.7(CYB5R3):c.575G>A (p.Arg192His)	Deficiency of cytochrome-b5 reductase [RCV002487108]\|Inborn genetic diseases [RCV004020978]\|not provided [RCV002518510]\|not specified [RCV000238951]	uncertain significance	22	42627362	42627362	Human	2	name
401855630	CV2753048	single nucleotide variant	NM_000398.7(CYB5R3):c.702G>T (p.Lys234Asn)	Deficiency of cytochrome-b5 reductase [RCV003338103]	uncertain significance	22	42623820	42623820	Human	1	name
401881472	CV2783846	single nucleotide variant	NM_000398.7(CYB5R3):c.503T>G (p.Ile168Ser)	Inborn genetic diseases [RCV003385367]	uncertain significance	22	42627649	42627649	Human	1	name
401931611	CV2803984	single nucleotide variant	NM_000398.7(CYB5R3):c.394G>C (p.Glu132Gln)	CYB5R3-related disorder [RCV003391512]\|Deficiency of cytochrome-b5 reductase [RCV003485944]\|not provided [RCV003708794]	uncertain significance	22	42628221	42628221	Human	1	name , trait , alternate_id
405869606	CV2832096	single nucleotide variant	NM_000398.7(CYB5R3):c.508A>G (p.Arg170Gly)	not provided [RCV004573107]	likely pathogenic	22	42627644	42627644	Human		name
404977285	CV2849941	single nucleotide variant	NM_000398.7(CYB5R3):c.298G>A (p.Asp100Asn)	Deficiency of cytochrome-b5 reductase [RCV003486051]	uncertain significance	22	42630917	42630917	Human	1	name
404977288	CV2849943	single nucleotide variant	NM_000398.7(CYB5R3):c.694C>T (p.Arg232Cys)	Deficiency of cytochrome-b5 reductase [RCV003486053]	uncertain significance	22	42623828	42623828	Human	1	name
404977289	CV2849944	single nucleotide variant	NM_000398.7(CYB5R3):c.472G>A (p.Ala158Thr)	Deficiency of cytochrome-b5 reductase [RCV003486054]\|not provided [RCV004810012]	uncertain significance	22	42627680	42627680	Human	1	name
402497758	CV2871661	single nucleotide variant	NM_000398.7(CYB5R3):c.805C>A (p.Pro269Thr)	not provided [RCV003545592]	uncertain significance	22	42619874	42619874	Human		name
402493729	CV2890389	single nucleotide variant	NM_000398.7(CYB5R3):c.775C>T (p.Arg259Trp)	not provided [RCV003573210]	uncertain significance	22	42619904	42619904	Human		name
405238863	CV3081401	single nucleotide variant	NM_000398.7(CYB5R3):c.861C>G (p.Asn287Lys)	not provided [RCV003736473]	uncertain significance	22	42619818	42619818	Human		name
405234025	CV3158059	single nucleotide variant	NM_000398.7(CYB5R3):c.527G>A (p.Gly176Asp)	not provided [RCV003865815]	uncertain significance	22	42627625	42627625	Human		name
404992112	CV3184386	single nucleotide variant	NM_000398.7(CYB5R3):c.906A>G (p.Ter302Trp)	Hereditary methemoglobinemia [RCV003881713]	uncertain significance	22	42619773	42619773	Human	2	name
405666084	CV3239429	single nucleotide variant	NM_000398.7(CYB5R3):c.405G>C (p.Gln135His)	Inborn genetic diseases [RCV004367673]	uncertain significance	22	42628210	42628210	Human	1	name
405666096	CV3239431	single nucleotide variant	NM_000398.7(CYB5R3):c.862C>G (p.Leu288Val)	Inborn genetic diseases [RCV004367675]	uncertain significance	22	42619817	42619817	Human	1	name
405855361	CV3394124	single nucleotide variant	NM_000398.7(CYB5R3):c.440G>C (p.Gly147Ala)	Deficiency of cytochrome-b5 reductase [RCV004547351]	uncertain significance	22	42628175	42628175	Human	1	name
407452195	CV3420025	single nucleotide variant	NM_000398.7(CYB5R3):c.870C>G (p.His290Gln)	Inborn genetic diseases [RCV004608374]	uncertain significance	22	42619809	42619809	Human	1	name
407574130	CV3498479	single nucleotide variant	NM_000398.7(CYB5R3):c.557C>G (p.Pro186Arg)	not specified [RCV004702954]	uncertain significance	22	42627380	42627380	Human		name
408388902	CV3529139	single nucleotide variant	NM_000398.7(CYB5R3):c.403C>G (p.Gln135Glu)	not provided [RCV004773961]	uncertain significance	22	42628212	42628212	Human		name
596926879	CV3539899	single nucleotide variant	NM_000398.7(CYB5R3):c.819G>A (p.Met273Ile)	not provided [RCV004790890]	uncertain significance	22	42619860	42619860	Human		name
596926884	CV3539900	single nucleotide variant	NM_000398.7(CYB5R3):c.592C>A (p.Pro198Thr)	not provided [RCV004790891]	uncertain significance	22	42627345	42627345	Human		name
596938316	CV3550159	single nucleotide variant	NM_000398.7(CYB5R3):c.493T>C (p.Ser165Pro)	Central core myopathy [RCV004813461]	uncertain significance	22	42627659	42627659	Human	1	name
597672141	CV3657989	single nucleotide variant	NM_000398.7(CYB5R3):c.477C>G (p.Ile159Met)	Inborn genetic diseases [RCV004981410]	uncertain significance	22	42627675	42627675	Human	1	name
597672146	CV3657990	single nucleotide variant	NM_000398.7(CYB5R3):c.716T>C (p.Leu239Pro)	Inborn genetic diseases [RCV004981411]	uncertain significance	22	42623806	42623806	Human	1	name
597656537	CV3731585	single nucleotide variant	NM_000398.7(CYB5R3):c.361T>C (p.Phe121Leu)	not provided [RCV005001766]	uncertain significance	22	42628254	42628254	Human		name
597835890	CV3761044	single nucleotide variant	NM_000398.7(CYB5R3):c.403C>T (p.Gln135Ter)	not provided [RCV005085595]	pathogenic	22	42628212	42628212	Human		name
597864000	CV3860808	single nucleotide variant	NM_000398.7(CYB5R3):c.535G>A (p.Ala179Thr)	not provided [RCV005196336]	likely pathogenic	22	42627617	42627617	Human		name
598127539	CV3882728	single nucleotide variant	NM_000398.7(CYB5R3):c.599A>G (p.Asp200Gly)	not provided [RCV005234259]	uncertain significance	22	42627338	42627338	Human		name
598127695	CV3882824	single nucleotide variant	NM_000398.7(CYB5R3):c.378G>T (p.Lys126Asn)	not provided [RCV005234355]	uncertain significance	22	42628237	42628237	Human		name
598199983	CV3892607	single nucleotide variant	NM_000398.7(CYB5R3):c.550A>G (p.Ile184Val)	not provided [RCV005254440]	uncertain significance	22	42627387	42627387	Human		name
12912668	CV422383	single nucleotide variant	NM_000398.7(CYB5R3):c.535G>C (p.Ala179Pro)	not provided [RCV000492877]	likely pathogenic	22	42627617	42627617	Human		name
13528166	CV497548	single nucleotide variant	NM_000398.7(CYB5R3):c.757G>A (p.Val253Met)	Central core myopathy [RCV004813125]\|Deficiency of cytochrome-b5 reductase [RCV002498895]\|Hereditary methemoglobinemia [RCV000601950]\|not provided [RCV001811091]	pathogenic\|likely pathogenic	22	42619922	42619922	Human	3	name
15040323	CV682758	single nucleotide variant	NM_000398.7(CYB5R3):c.890G>A (p.Arg297His)	CYB5R3-related disorder [RCV003908142]\|Neurodevelopmental delay [RCV000856706]\|not provided [RCV000949631]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	42619789	42619789	Human	2	name , trait , alternate_id
15104470	CV705970	single nucleotide variant	NM_000398.7(CYB5R3):c.898G>A (p.Val300Ile)	not provided [RCV000959693]	benign\|likely benign	22	42619781	42619781	Human	2	name
15104470	CV705970	single nucleotide variant	NM_000398.7(CYB5R3):c.898G>A (p.Val300Ile)	not provided [RCV000959693]	benign\|likely benign	22	42619781	42619782	Human	2	name
21068372	CV798115	single nucleotide variant	NM_000398.7(CYB5R3):c.352C>T (p.His118Tyr)	METHEMOGLOBINEMIA, TYPE I [RCV001027445]\|not provided [RCV000997941]	pathogenic\|uncertain significance	22	42628263	42628263	Human	1	name
21406129	CV800190	single nucleotide variant	NM_000398.7(CYB5R3):c.349A>G (p.Thr117Ala)	Inborn genetic diseases [RCV004973240]\|not specified [RCV001002043]	uncertain significance	22	42628266	42628266	Human	1	name
25327412	CV815836	single nucleotide variant	NM_000398.7(CYB5R3):c.310G>T (p.Gly104Cys)	METHEMOGLOBINEMIA, TYPE I [RCV001027444]	pathogenic	22	42630905	42630905	Human	1	name
40903468	CV977297	single nucleotide variant	NM_000398.7(CYB5R3):c.806C>T (p.Pro269Leu)	Deficiency of cytochrome-b5 reductase [RCV001270756]\|not provided [RCV002541655]	likely pathogenic\|uncertain significance	22	42619873	42619873	Human	1	name
41407374	CV982252	single nucleotide variant	NM_000398.7(CYB5R3):c.884C>T (p.Thr295Met)	not provided [RCV001810675]	uncertain significance	22	42619795	42619795	Human		name
42723312	CV984456	single nucleotide variant	NM_000398.7(CYB5R3):c.437G>C (p.Ser146Thr)	Intellectual disability [RCV001291090]	uncertain significance	22	42628178	42628178	Human	2	name
8555533	CV15290	microsatellite	NM_000398.7(CYB5R3):c.763GAG[1] (p.Glu256del)	METHEMOGLOBINEMIA, TYPE I [RCV000000275]	pathogenic	22	42619911	42619913	Human		name
8555524	CV15281	deletion	NM_000398.7(CYB5R3):c.817_819del (p.Met273del)	METHEMOGLOBINEMIA, TYPE II [RCV000000266]	pathogenic	22	42619860	42619862	Human	1	name
8555525	CV15282	deletion	NM_000398.7(CYB5R3):c.895_897del (p.Phe299del)	METHEMOGLOBINEMIA, TYPE II [RCV000000267]	pathogenic	22	42619782	42619784	Human	1	name
151352445	CV1321430	deletion	NM_000398.7(CYB5R3):c.871_879del (p.Val291_His293del)	not provided [RCV001811848]	uncertain significance	22	42619800	42619808	Human		name

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