Abca6 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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159 records found for search term Abca6

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
401906527	CV2808275	single nucleotide variant	NM_080284.3(ABCA6):c.792-8T>C	not provided [RCV003421450]	likely benign	17	69129759	69129759	Human		name
155958340	CV2395163	single nucleotide variant	NM_080284.3(ABCA6):c.61C>T (p.Leu21Phe)	not specified [RCV004236836]	uncertain significance	17	69140643	69140643	Human		name
401725248	CV2697331	single nucleotide variant	NM_080284.3(ABCA6):c.64A>C (p.Lys22Gln)	not specified [RCV004304086]	uncertain significance	17	69140640	69140640	Human		name
407521734	CV3437152	single nucleotide variant	NM_080284.3(ABCA6):c.65A>G (p.Lys22Arg)	not specified [RCV004630470]	uncertain significance	17	69140639	69140639	Human		name
155968341	CV2234265	single nucleotide variant	NM_080284.3(ABCA6):c.236A>G (p.Tyr79Cys)	not specified [RCV004106338]	uncertain significance	17	69137361	69137361	Human		name
401739956	CV2683216	single nucleotide variant	NM_080284.3(ABCA6):c.115C>A (p.Leu39Ile)	not specified [RCV004286211]	uncertain significance	17	69137482	69137482	Human		name
401735253	CV2706725	single nucleotide variant	NM_080284.3(ABCA6):c.199G>C (p.Val67Leu)	not specified [RCV004319289]	uncertain significance	17	69137398	69137398	Human		name
401906525	CV2808273	single nucleotide variant	NM_080284.3(ABCA6):c.2523A>T (p.Ala841=)	not provided [RCV003421448]	likely benign	17	69106078	69106078	Human		name
401906526	CV2808274	single nucleotide variant	NM_080284.3(ABCA6):c.1620C>T (p.Ile540=)	not provided [RCV003421449]	likely benign	17	69114924	69114924	Human		name
407521917	CV3437245	single nucleotide variant	NM_080284.3(ABCA6):c.271A>G (p.Asn91Asp)	not specified [RCV004630554]	uncertain significance	17	69137326	69137326	Human		name
597759003	CV3684242	single nucleotide variant	NM_080284.3(ABCA6):c.230T>C (p.Val77Ala)	not specified [RCV004925411]	uncertain significance	17	69137367	69137367	Human		name
597732587	CV3688241	single nucleotide variant	NM_080284.3(ABCA6):c.161T>C (p.Val54Ala)	not specified [RCV004920035]	uncertain significance	17	69137436	69137436	Human		name
597789273	CV3688322	single nucleotide variant	NM_080284.3(ABCA6):c.215G>C (p.Ser72Thr)	not specified [RCV004932926]	uncertain significance	17	69137382	69137382	Human		name
156320185	CV2197244	single nucleotide variant	NM_080284.3(ABCA6):c.767T>C (p.Met256Thr)	not specified [RCV004079024]	uncertain significance	17	69133665	69133665	Human		name
156177992	CV2229225	single nucleotide variant	NM_080284.3(ABCA6):c.436C>T (p.Pro146Ser)	not specified [RCV004101039]	uncertain significance	17	69136116	69136116	Human		name
156388951	CV2229808	single nucleotide variant	NM_080284.3(ABCA6):c.571A>G (p.Thr191Ala)	not specified [RCV004105382]	uncertain significance	17	69133861	69133861	Human		name
155952030	CV2238891	single nucleotide variant	NM_080284.3(ABCA6):c.484G>A (p.Glu162Lys)	not specified [RCV004109800]	uncertain significance	17	69134719	69134719	Human		name
156060742	CV2263073	single nucleotide variant	NM_080284.3(ABCA6):c.958G>A (p.Val320Met)	not specified [RCV004131328]	uncertain significance	17	69128780	69128780	Human		name
156075205	CV2273265	single nucleotide variant	NM_080284.3(ABCA6):c.680T>A (p.Phe227Tyr)	not specified [RCV004132058]	uncertain significance	17	69133752	69133752	Human		name
155994291	CV2277956	single nucleotide variant	NM_080284.3(ABCA6):c.319G>A (p.Ala107Thr)	not specified [RCV004141202]	uncertain significance	17	69136233	69136233	Human		name
156089579	CV2344451	single nucleotide variant	NM_080284.3(ABCA6):c.394A>C (p.Thr132Pro)	not specified [RCV004195195]	uncertain significance	17	69136158	69136158	Human		name
329355357	CV2445391	single nucleotide variant	NM_080284.3(ABCA6):c.600G>A (p.Met200Ile)	not specified [RCV004257465]	uncertain significance	17	69133832	69133832	Human		name
329380514	CV2466668	single nucleotide variant	NM_080284.3(ABCA6):c.484G>C (p.Glu162Gln)	not specified [RCV004274182]	uncertain significance	17	69134719	69134719	Human		name
401783351	CV2716312	single nucleotide variant	NM_080284.3(ABCA6):c.476G>C (p.Gly159Ala)	not specified [RCV004325311]	uncertain significance	17	69134727	69134727	Human		name
401737149	CV2717980	single nucleotide variant	NM_080284.3(ABCA6):c.407A>G (p.Lys136Arg)	not specified [RCV004321928]	uncertain significance	17	69136145	69136145	Human		name
401859143	CV2771415	single nucleotide variant	NM_080284.3(ABCA6):c.345A>C (p.Glu115Asp)	not specified [RCV004348468]	uncertain significance	17	69136207	69136207	Human		name
401914800	CV2808270	single nucleotide variant	NM_080284.3(ABCA6):c.4428G>A (p.Ala1476=)	not provided [RCV003428429]	likely benign	17	69083259	69083259	Human		name
401914797	CV2808271	single nucleotide variant	NM_080284.3(ABCA6):c.3909A>G (p.Ala1303=)	not provided [RCV003428430]	likely benign	17	69086646	69086646	Human		name
401906524	CV2808272	single nucleotide variant	NM_080284.3(ABCA6):c.3141A>G (p.Leu1047=)	not provided [RCV003421447]	likely benign	17	69096781	69096781	Human		name
405799035	CV3263953	single nucleotide variant	NM_080284.3(ABCA6):c.536A>G (p.Gln179Arg)	not specified [RCV004402405]	uncertain significance	17	69134667	69134667	Human		name
405799466	CV3274409	single nucleotide variant	NM_080284.3(ABCA6):c.664A>G (p.Met222Val)	not specified [RCV004402547]	uncertain significance	17	69133768	69133768	Human		name
597788404	CV3678125	single nucleotide variant	NM_080284.3(ABCA6):c.916T>A (p.Leu306Ile)	not specified [RCV004932708]	uncertain significance	17	69129627	69129627	Human		name
597730789	CV3678303	single nucleotide variant	NM_080284.3(ABCA6):c.893T>C (p.Met298Thr)	not specified [RCV004919853]	uncertain significance	17	69129650	69129650	Human		name
597706891	CV3684514	single nucleotide variant	NM_080284.3(ABCA6):c.4261T>C (p.Leu1421=)	not specified [RCV004917034]	likely benign	17	69084355	69084355	Human		name
598219134	CV3970567	single nucleotide variant	NM_080284.3(ABCA6):c.881T>C (p.Met294Thr)	not specified [RCV005340247]	uncertain significance	17	69129662	69129662	Human		name
8628062	CV83206	single nucleotide variant	NM_080284.2(ABCA6):c.652C>T (p.Leu218Phe)	Malignant melanoma [RCV000063286]	not provided	17	69133780	69133780	Human		name
156145710	CV2196819	single nucleotide variant	NM_080284.3(ABCA6):c.1105A>C (p.Thr369Pro)	not specified [RCV004069828]	uncertain significance	17	69128633	69128633	Human		name
155925539	CV2211857	single nucleotide variant	NM_080284.3(ABCA6):c.2422G>A (p.Glu808Lys)	not specified [RCV004086677]	uncertain significance	17	69106179	69106179	Human		name
155972434	CV2238786	single nucleotide variant	NM_080284.3(ABCA6):c.1541G>T (p.Gly514Val)	not specified [RCV004109709]	uncertain significance	17	69115441	69115441	Human		name
156081719	CV2256152	single nucleotide variant	NM_080284.3(ABCA6):c.1850A>C (p.Glu617Ala)	not specified [RCV004116429]	uncertain significance	17	69113670	69113670	Human		name
156257006	CV2264845	single nucleotide variant	NM_080284.3(ABCA6):c.1544A>G (p.His515Arg)	not specified [RCV004134603]	uncertain significance	17	69115438	69115438	Human		name
156361627	CV2326650	single nucleotide variant	NM_080284.3(ABCA6):c.1559A>C (p.Lys520Thr)	not specified [RCV004185230]	uncertain significance	17	69115423	69115423	Human		name
156072830	CV2331539	single nucleotide variant	NM_080284.3(ABCA6):c.1622A>G (p.Tyr541Cys)	not specified [RCV004182141]	uncertain significance	17	69114922	69114922	Human		name
156067737	CV2340989	single nucleotide variant	NM_080284.3(ABCA6):c.1619T>A (p.Ile540Asn)	not specified [RCV004181481]	uncertain significance	17	69114925	69114925	Human		name
156222554	CV2343967	single nucleotide variant	NM_080284.3(ABCA6):c.2058G>A (p.Met686Ile)	not specified [RCV004195586]	uncertain significance	17	69112257	69112257	Human		name
156383651	CV2361631	single nucleotide variant	NM_080284.3(ABCA6):c.1865A>G (p.Lys622Arg)	not specified [RCV004603377]	uncertain significance	17	69113655	69113655	Human		name
156386869	CV2364872	single nucleotide variant	NM_080284.3(ABCA6):c.1268A>T (p.Tyr423Phe)	not specified [RCV004219731]	uncertain significance	17	69123407	69123407	Human		name
156072612	CV2365401	single nucleotide variant	NM_080284.3(ABCA6):c.2531G>A (p.Arg844His)	not specified [RCV004209482]	uncertain significance	17	69106070	69106070	Human		name
156017495	CV2370117	single nucleotide variant	NM_080284.3(ABCA6):c.1559A>G (p.Lys520Arg)	not specified [RCV004211005]	uncertain significance	17	69115423	69115423	Human		name
156178805	CV2374622	single nucleotide variant	NM_080284.3(ABCA6):c.1678G>A (p.Val560Ile)	not specified [RCV004225245]	uncertain significance	17	69114866	69114866	Human		name
156251831	CV2394367	single nucleotide variant	NM_080284.3(ABCA6):c.1368T>A (p.Asp456Glu)	not specified [RCV004238586]	uncertain significance	17	69123307	69123307	Human		name
155970004	CV2400834	single nucleotide variant	NM_080284.3(ABCA6):c.1186A>G (p.Met396Val)	not specified [RCV004242491]	uncertain significance	17	69124969	69124969	Human		name
329381238	CV2440739	single nucleotide variant	NM_080284.3(ABCA6):c.1469A>G (p.Lys490Arg)	not specified [RCV004258686]	uncertain significance	17	69117924	69117924	Human		name
329367146	CV2442131	single nucleotide variant	NM_080284.3(ABCA6):c.1540G>T (p.Gly514Cys)	not specified [RCV004264324]	uncertain significance	17	69115442	69115442	Human		name
329401489	CV2460958	single nucleotide variant	NM_080284.3(ABCA6):c.1879A>G (p.Ile627Val)	not specified [RCV004265118]	uncertain significance	17	69113641	69113641	Human		name
329353311	CV2469133	single nucleotide variant	NM_080284.3(ABCA6):c.1846A>G (p.Ser616Gly)	not specified [RCV004274360]	uncertain significance	17	69113674	69113674	Human		name
401726635	CV2677293	single nucleotide variant	NM_080284.3(ABCA6):c.1644G>A (p.Met548Ile)	not specified [RCV004295912]	uncertain significance	17	69114900	69114900	Human		name
401772913	CV2698028	single nucleotide variant	NM_080284.3(ABCA6):c.1181A>G (p.Tyr394Cys)	not specified [RCV004302831]	uncertain significance	17	69124974	69124974	Human		name
401772917	CV2698029	single nucleotide variant	NM_080284.3(ABCA6):c.2109G>T (p.Arg703Ser)	not specified [RCV004302832]	uncertain significance	17	69112206	69112206	Human		name
401749479	CV2703138	single nucleotide variant	NM_080284.3(ABCA6):c.2309G>A (p.Gly770Glu)	not specified [RCV004321425]	uncertain significance	17	69107776	69107776	Human		name
401769511	CV2731354	single nucleotide variant	NM_080284.3(ABCA6):c.1618A>G (p.Ile540Val)	not specified [RCV004330723]	uncertain significance	17	69114926	69114926	Human		name
401863724	CV2770820	single nucleotide variant	NM_080284.3(ABCA6):c.2199T>A (p.Asp733Glu)	not specified [RCV004349853]	uncertain significance	17	69110874	69110874	Human		name
401894932	CV2782160	single nucleotide variant	NM_080284.3(ABCA6):c.1952A>G (p.Asp651Gly)	not specified [RCV004359140]	uncertain significance	17	69113311	69113311	Human		name
401871150	CV2783434	single nucleotide variant	NM_080284.3(ABCA6):c.1256A>G (p.Lys419Arg)	not specified [RCV004365780]	uncertain significance	17	69124899	69124899	Human		name
405798006	CV3263479	single nucleotide variant	NM_080284.3(ABCA6):c.1717G>A (p.Val573Met)	not specified [RCV004402118]	uncertain significance	17	69114827	69114827	Human		name
405798093	CV3263508	single nucleotide variant	NM_080284.3(ABCA6):c.1742C>A (p.Ala581Asp)	not specified [RCV004402147]	uncertain significance	17	69114802	69114802	Human		name
405798180	CV3263536	single nucleotide variant	NM_080284.3(ABCA6):c.1794A>G (p.Ile598Met)	not specified [RCV004402175]	uncertain significance	17	69113726	69113726	Human		name
405791021	CV3266887	single nucleotide variant	NM_080284.3(ABCA6):c.1280G>A (p.Arg427His)	not specified [RCV004399710]	uncertain significance	17	69123395	69123395	Human		name
405791085	CV3266910	single nucleotide variant	NM_080284.3(ABCA6):c.1361A>G (p.Glu454Gly)	not specified [RCV004399733]	uncertain significance	17	69123314	69123314	Human		name
405791232	CV3266963	single nucleotide variant	NM_080284.3(ABCA6):c.1399C>T (p.Pro467Ser)	not specified [RCV004399786]	uncertain significance	17	69123276	69123276	Human		name
405798687	CV3273996	single nucleotide variant	NM_080284.3(ABCA6):c.2003T>C (p.Phe668Ser)	not specified [RCV004402321]	uncertain significance	17	69113260	69113260	Human		name
405803346	CV3274088	single nucleotide variant	NM_080284.3(ABCA6):c.2157C>A (p.Asn719Lys)	not specified [RCV004404395]	uncertain significance	17	69110916	69110916	Human		name
405803413	CV3274124	single nucleotide variant	NM_080284.3(ABCA6):c.2197G>A (p.Asp733Asn)	not specified [RCV004404431]	uncertain significance	17	69110876	69110876	Human		name
405803588	CV3274218	single nucleotide variant	NM_080284.3(ABCA6):c.2345A>G (p.Asn782Ser)	not specified [RCV004404525]	uncertain significance	17	69107740	69107740	Human		name
405803771	CV3274315	single nucleotide variant	NM_080284.3(ABCA6):c.2437A>G (p.Met813Val)	not specified [RCV004404622]	uncertain significance	17	69106164	69106164	Human		name
407527835	CV3433705	single nucleotide variant	NM_080284.3(ABCA6):c.2044A>G (p.Arg682Gly)	not specified [RCV004632923]	uncertain significance	17	69112271	69112271	Human		name
407510784	CV3433798	single nucleotide variant	NM_080284.3(ABCA6):c.2800G>C (p.Asp934His)	not specified [RCV004626241]	uncertain significance	17	69102909	69102909	Human		name
407528200	CV3433863	single nucleotide variant	NM_080284.3(ABCA6):c.1450A>G (p.Lys484Glu)	not specified [RCV004633061]	uncertain significance	17	69117943	69117943	Human		name
407527155	CV3437341	single nucleotide variant	NM_080284.3(ABCA6):c.2723T>C (p.Leu908Ser)	not specified [RCV004632700]	uncertain significance	17	69105479	69105479	Human		name
407464839	CV3444057	single nucleotide variant	NM_080284.3(ABCA6):c.2334G>A (p.Met778Ile)	not specified [RCV004635181]	uncertain significance	17	69107751	69107751	Human		name
407510909	CV3444151	single nucleotide variant	NM_080284.3(ABCA6):c.2639A>T (p.Asn880Ile)	not specified [RCV004626287]	uncertain significance	17	69105563	69105563	Human		name
407465267	CV3444223	single nucleotide variant	NM_080284.3(ABCA6):c.2974A>C (p.Thr992Pro)	not specified [RCV004635322]	uncertain significance	17	69100835	69100835	Human		name
597788426	CV3678213	single nucleotide variant	NM_080284.3(ABCA6):c.1265C>T (p.Pro422Leu)	not specified [RCV004932738]	uncertain significance	17	69124890	69124890	Human		name
597788881	CV3678481	single nucleotide variant	NM_080284.3(ABCA6):c.1582A>G (p.Asn528Asp)	not specified [RCV004932834]	uncertain significance	17	69115400	69115400	Human		name
597788217	CV3681537	single nucleotide variant	NM_080284.3(ABCA6):c.1594G>C (p.Val532Leu)	not specified [RCV004932665]	uncertain significance	17	69115388	69115388	Human		name
597759165	CV3684330	single nucleotide variant	NM_080284.3(ABCA6):c.2710C>T (p.Arg904Cys)	not specified [RCV004925445]	uncertain significance	17	69105492	69105492	Human		name
597759275	CV3684422	single nucleotide variant	NM_080284.3(ABCA6):c.1472C>T (p.Ser491Phe)	not specified [RCV004925469]	uncertain significance	17	69117921	69117921	Human		name
597704051	CV3687881	single nucleotide variant	NM_080284.3(ABCA6):c.2395G>A (p.Glu799Lys)	not specified [RCV004916771]	uncertain significance	17	69106206	69106206	Human		name
597704593	CV3687933	single nucleotide variant	NM_080284.3(ABCA6):c.1925C>T (p.Thr642Ile)	not specified [RCV004916802]	uncertain significance	17	69113338	69113338	Human		name
597744103	CV3688408	single nucleotide variant	NM_080284.3(ABCA6):c.2851A>T (p.Ile951Phe)	not specified [RCV004922182]	uncertain significance	17	69102858	69102858	Human		name
598219868	CV3966905	single nucleotide variant	NM_080284.3(ABCA6):c.1037T>C (p.Val346Ala)	not specified [RCV005340360]	likely benign	17	69128701	69128701	Human		name
598250558	CV3967049	single nucleotide variant	NM_080284.3(ABCA6):c.2566T>A (p.Leu856Met)	not specified [RCV005345734]	uncertain significance	17	69106035	69106035	Human		name
598218554	CV3970483	single nucleotide variant	NM_080284.3(ABCA6):c.1979G>A (p.Arg660His)	not specified [RCV005340168]	likely benign	17	69113284	69113284	Human		name
598186163	CV3970642	single nucleotide variant	NM_080284.3(ABCA6):c.2711G>A (p.Arg904His)	not specified [RCV005353488]	uncertain significance	17	69105491	69105491	Human		name
598249402	CV3970776	single nucleotide variant	NM_080284.3(ABCA6):c.2063A>G (p.Asn688Ser)	not specified [RCV005345582]	uncertain significance	17	69112252	69112252	Human		name
598264137	CV3974369	single nucleotide variant	NM_080284.3(ABCA6):c.2350G>A (p.Val784Ile)	not specified [RCV005348781]	likely benign	17	69107735	69107735	Human		name
598264350	CV3974442	single nucleotide variant	NM_080284.3(ABCA6):c.2407A>G (p.Met803Val)	not specified [RCV005348834]	uncertain significance	17	69106194	69106194	Human		name
598220513	CV3977648	single nucleotide variant	NM_080284.3(ABCA6):c.2233G>A (p.Val745Ile)	not specified [RCV005340463]	uncertain significance	17	69110840	69110840	Human		name
598251847	CV3977725	single nucleotide variant	NM_080284.3(ABCA6):c.1336A>G (p.Thr446Ala)	not specified [RCV005345981]	uncertain significance	17	69123339	69123339	Human		name
598263580	CV3977889	single nucleotide variant	NM_080284.3(ABCA6):c.2981A>G (p.His994Arg)	not specified [RCV005348588]	uncertain significance	17	69100828	69100828	Human		name
156145298	CV2196787	single nucleotide variant	NM_080284.3(ABCA6):c.3680G>A (p.Arg1227Gln)	not specified [RCV004069802]	likely benign	17	69088185	69088185	Human		name
156320278	CV2197264	single nucleotide variant	NM_080284.3(ABCA6):c.3897G>T (p.Lys1299Asn)	not specified [RCV004079040]	uncertain significance	17	69086658	69086658	Human		name
156030925	CV2202572	single nucleotide variant	NM_080284.3(ABCA6):c.4084G>C (p.Glu1362Gln)	not specified [RCV004080855]	uncertain significance	17	69085128	69085128	Human		name
156082852	CV2205475	single nucleotide variant	NM_080284.3(ABCA6):c.3958G>A (p.Gly1320Arg)	not specified [RCV004082416]	uncertain significance	17	69085696	69085696	Human		name
156093492	CV2217004	single nucleotide variant	NM_080284.3(ABCA6):c.4790A>G (p.Asn1597Ser)	not specified [RCV004085364]	uncertain significance	17	69079037	69079037	Human		name
156246884	CV2219150	single nucleotide variant	NM_080284.3(ABCA6):c.4209T>A (p.His1403Gln)	not specified [RCV004087305]	uncertain significance	17	69084483	69084483	Human		name
155930665	CV2224782	single nucleotide variant	NM_080284.3(ABCA6):c.3470C>T (p.Thr1157Ile)	not specified [RCV004092601]	uncertain significance	17	69091201	69091201	Human		name
156080842	CV2226657	single nucleotide variant	NM_080284.3(ABCA6):c.4550C>A (p.Thr1517Lys)	not specified [RCV004101896]	uncertain significance	17	69082939	69082939	Human		name
156237110	CV2235637	single nucleotide variant	NM_080284.3(ABCA6):c.3034G>T (p.Gly1012Trp)	not specified [RCV004111783]	uncertain significance	17	69098006	69098006	Human		name
156113418	CV2263792	single nucleotide variant	NM_080284.3(ABCA6):c.3193G>A (p.Asp1065Asn)	not specified [RCV004136074]	uncertain significance	17	69096729	69096729	Human		name
156167941	CV2270524	single nucleotide variant	NM_080284.3(ABCA6):c.3649A>G (p.Met1217Val)	not specified [RCV004137481]	uncertain significance	17	69088216	69088216	Human		name
156278461	CV2284942	single nucleotide variant	NM_080284.3(ABCA6):c.3034G>A (p.Gly1012Arg)	not specified [RCV004143388]	uncertain significance	17	69098006	69098006	Human		name
156003335	CV2288293	single nucleotide variant	NM_080284.3(ABCA6):c.3527T>A (p.Val1176Glu)	not specified [RCV004149794]	likely benign	17	69091144	69091144	Human		name
156260559	CV2305111	single nucleotide variant	NM_080284.3(ABCA6):c.3759A>C (p.Glu1253Asp)	not specified [RCV004168985]	uncertain significance	17	69087413	69087413	Human		name
156197784	CV2334375	single nucleotide variant	NM_080284.3(ABCA6):c.4742C>T (p.Thr1581Ile)	not specified [RCV004188351]	uncertain significance	17	69079220	69079220	Human		name
155923494	CV2351726	single nucleotide variant	NM_080284.3(ABCA6):c.4174G>A (p.Ala1392Thr)	not specified [RCV004197885]	uncertain significance	17	69085038	69085038	Human		name
156066982	CV2356577	single nucleotide variant	NM_080284.3(ABCA6):c.3176G>A (p.Cys1059Tyr)	not specified [RCV004201944]	uncertain significance	17	69096746	69096746	Human		name
155931068	CV2362446	single nucleotide variant	NM_080284.3(ABCA6):c.4160C>T (p.Ala1387Val)	not specified [RCV004213067]	likely benign	17	69085052	69085052	Human		name
156199161	CV2365251	single nucleotide variant	NM_080284.3(ABCA6):c.3134C>T (p.Ser1045Phe)	not specified [RCV004209350]	uncertain significance	17	69096788	69096788	Human		name
329373094	CV2434103	single nucleotide variant	NM_080284.3(ABCA6):c.4078C>G (p.Pro1360Ala)	not specified [RCV004250001]	uncertain significance	17	69085134	69085134	Human		name
329353820	CV2439735	single nucleotide variant	NM_080284.3(ABCA6):c.4375G>A (p.Val1459Ile)	not specified [RCV004255742]	likely benign	17	69083312	69083312	Human		name
401720667	CV2673423	single nucleotide variant	NM_080284.3(ABCA6):c.4444C>T (p.Arg1482Cys)	not specified [RCV004288397]	uncertain significance	17	69083243	69083243	Human		name
401735768	CV2692194	single nucleotide variant	NM_080284.3(ABCA6):c.4166C>A (p.Ala1389Glu)	not specified [RCV004301891]	uncertain significance	17	69085046	69085046	Human		name
401736655	CV2725154	single nucleotide variant	NM_080284.3(ABCA6):c.4510C>T (p.Leu1504Phe)	not specified [RCV004319894]	likely benign	17	69082979	69082979	Human		name
401861455	CV2779755	single nucleotide variant	NM_080284.3(ABCA6):c.3911G>T (p.Arg1304Ile)	not specified [RCV004353393]	uncertain significance	17	69086644	69086644	Human		name
405792266	CV3263667	single nucleotide variant	NM_080284.3(ABCA6):c.4322C>G (p.Thr1441Arg)	not specified [RCV004400137]	uncertain significance	17	69084294	69084294	Human		name
405792590	CV3263773	single nucleotide variant	NM_080284.3(ABCA6):c.4509A>T (p.Lys1503Asn)	not specified [RCV004400243]	uncertain significance	17	69082980	69082980	Human		name
405781195	CV3267077	single nucleotide variant	NM_080284.3(ABCA6):c.3889A>T (p.Arg1297Trp)	not specified [RCV004397642]	uncertain significance	17	69086666	69086666	Human		name
405782267	CV3267259	single nucleotide variant	NM_080284.3(ABCA6):c.4061G>T (p.Gly1354Val)	not specified [RCV004397825]	uncertain significance	17	69085151	69085151	Human		name
405791712	CV3267317	single nucleotide variant	NM_080284.3(ABCA6):c.4079C>A (p.Pro1360His)	not specified [RCV004399953]	uncertain significance	17	69085133	69085133	Human		name
405803982	CV3270512	single nucleotide variant	NM_080284.3(ABCA6):c.3106A>G (p.Ile1036Val)	not specified [RCV004404761]	likely benign	17	69097934	69097934	Human		name
405804389	CV3270609	single nucleotide variant	NM_080284.3(ABCA6):c.3228G>A (p.Met1076Ile)	not specified [RCV004404858]	uncertain significance	17	69096694	69096694	Human		name
405779607	CV3270646	single nucleotide variant	NM_080284.3(ABCA6):c.3418A>G (p.Ile1140Val)	not specified [RCV004397374]	uncertain significance	17	69091253	69091253	Human		name
405780132	CV3270736	single nucleotide variant	NM_080284.3(ABCA6):c.3477G>A (p.Met1159Ile)	not specified [RCV004397465]	uncertain significance	17	69091194	69091194	Human		name
405780608	CV3270841	single nucleotide variant	NM_080284.3(ABCA6):c.3710A>G (p.Gln1237Arg)	not specified [RCV004397571]	uncertain significance	17	69087462	69087462	Human		name
405803875	CV3274372	single nucleotide variant	NM_080284.3(ABCA6):c.3000C>A (p.Ser1000Arg)	not specified [RCV004404679]	uncertain significance	17	69100809	69100809	Human		name
407527615	CV3433625	single nucleotide variant	NM_080284.3(ABCA6):c.4470G>C (p.Arg1490Ser)	not specified [RCV004632853]	uncertain significance	17	69083217	69083217	Human		name
407528360	CV3433940	single nucleotide variant	NM_080284.3(ABCA6):c.3859G>A (p.Ala1287Thr)	not specified [RCV004633124]	uncertain significance	17	69086696	69086696	Human		name
407527406	CV3437434	single nucleotide variant	NM_080284.3(ABCA6):c.4088A>G (p.Asn1363Ser)	not specified [RCV004632783]	uncertain significance	17	69085124	69085124	Human		name
597731131	CV3678387	single nucleotide variant	NM_080284.3(ABCA6):c.3993A>T (p.Arg1331Ser)	not specified [RCV004919888]	uncertain significance	17	69085661	69085661	Human		name
597707464	CV3681181	single nucleotide variant	NM_080284.3(ABCA6):c.4693G>A (p.Ala1565Thr)	not specified [RCV004917097]	uncertain significance	17	69081069	69081069	Human		name
597728818	CV3681277	single nucleotide variant	NM_080284.3(ABCA6):c.4360G>A (p.Ala1454Thr)	not specified [RCV004919624]	uncertain significance	17	69083327	69083327	Human		name
597759892	CV3681359	single nucleotide variant	NM_080284.3(ABCA6):c.3128C>G (p.Ala1043Gly)	not specified [RCV004925597]	uncertain significance	17	69096794	69096794	Human		name
597729311	CV3681443	single nucleotide variant	NM_080284.3(ABCA6):c.3907G>A (p.Ala1303Thr)	not specified [RCV004919692]	uncertain significance	17	69086648	69086648	Human		name
597759517	CV3684603	single nucleotide variant	NM_080284.3(ABCA6):c.4657G>A (p.Val1553Ile)	not specified [RCV004925521]	uncertain significance	17	69081105	69081105	Human		name
597704972	CV3687994	single nucleotide variant	NM_080284.3(ABCA6):c.4150C>T (p.Leu1384Phe)	not specified [RCV004916839]	uncertain significance	17	69085062	69085062	Human		name
597789029	CV3688152	single nucleotide variant	NM_080284.3(ABCA6):c.3077G>T (p.Ser1026Ile)	not specified [RCV004932870]	uncertain significance	17	69097963	69097963	Human		name
598250867	CV3967122	single nucleotide variant	NM_080284.3(ABCA6):c.4018A>T (p.Thr1340Ser)	not specified [RCV005345782]	uncertain significance	17	69085636	69085636	Human		name
598251243	CV3967215	single nucleotide variant	NM_080284.3(ABCA6):c.4594C>G (p.Pro1532Ala)	not specified [RCV005345853]	uncertain significance	17	69082895	69082895	Human		name
598186533	CV3970715	single nucleotide variant	NM_080284.3(ABCA6):c.4550C>T (p.Thr1517Met)	not specified [RCV005353542]	uncertain significance	17	69082939	69082939	Human		name
598233393	CV3970862	single nucleotide variant	NM_080284.3(ABCA6):c.3948G>T (p.Leu1316Phe)	not specified [RCV005342753]	uncertain significance	17	69085706	69085706	Human		name
598274087	CV3970950	single nucleotide variant	NM_080284.3(ABCA6):c.4366C>G (p.Gln1456Glu)	not specified [RCV005351243]	uncertain significance	17	69083321	69083321	Human		name
598232976	CV3974535	single nucleotide variant	NM_080284.3(ABCA6):c.4483G>T (p.Gly1495Cys)	not specified [RCV005342686]	uncertain significance	17	69083006	69083006	Human		name
598265032	CV3974620	single nucleotide variant	NM_080284.3(ABCA6):c.3035G>T (p.Gly1012Val)	not specified [RCV005348970]	uncertain significance	17	69098005	69098005	Human		name
598265367	CV3974711	single nucleotide variant	NM_080284.3(ABCA6):c.3829A>T (p.Ile1277Leu)	not specified [RCV005349043]	uncertain significance	17	69086726	69086726	Human		name
598252166	CV3977809	single nucleotide variant	NM_080284.3(ABCA6):c.4486T>A (p.Ser1496Thr)	not specified [RCV005346048]	uncertain significance	17	69083003	69083003	Human		name
598263754	CV3977971	single nucleotide variant	NM_080284.3(ABCA6):c.4610A>G (p.Gln1537Arg)	not specified [RCV005348648]	uncertain significance	17	69082879	69082879	Human		name
598263954	CV3978057	single nucleotide variant	NM_080284.3(ABCA6):c.3149C>T (p.Ser1050Leu)	not specified [RCV005348717]	uncertain significance	17	69096773	69096773	Human		name
8636317	CV91540	single nucleotide variant	NM_080284.3(ABCA6):c.4024G>A (p.Gly1342Arg)	not specified [RCV004106195]	uncertain significance\|not provided	17	69085630	69085630	Human		name

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