Chrna3 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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172 records found for search term Chrna3

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150413708	CV1199835	single nucleotide variant	NM_000743.5(CHRNA3):c.83-4A>G	Urinary bladder, atony of [RCV001578889]\|not provided [RCV001762729]	benign	15	78618919	78618919	Human	1	name
12791676	CV362506	single nucleotide variant	NM_000743.5(CHRNA3):c.*546C>T	nicotine response - Toxicity/ADR, Metabolism/PK [RCV000417128]	drug response	15	78596058	78596058	Human		name
150413975	CV1199832	single nucleotide variant	NM_000743.5(CHRNA3):c.268-5C>T	Urinary bladder, atony of [RCV001579080]\|not provided [RCV002573247]	benign	15	78617138	78617138	Human	1	name
156420082	CV1975567	single nucleotide variant	NM_000743.5(CHRNA3):c.82+11A>G	not provided [RCV002613334]	benign	15	78620702	78620702	Human		name
156328803	CV2094637	single nucleotide variant	NM_000743.5(CHRNA3):c.377+8G>C	not provided [RCV002899794]	benign	15	78617016	78617016	Human		name
597731256	CV3714608	single nucleotide variant	NM_000743.5(CHRNA3):c.223-1G>A	Urinary bladder, atony of [RCV005011963]	likely pathogenic	15	78618662	78618662	Human	1	name
15136792	CV760237	single nucleotide variant	NM_000743.5(CHRNA3):c.268-4C>G	not provided [RCV000921066]	likely benign	15	78617137	78617137	Human		name
21069921	CV794169	single nucleotide variant	NM_000743.5(CHRNA3):c.267+2T>G	Urinary bladder, atony of [RCV000993666]	pathogenic	15	78618615	78618615	Human	1	name
150413978	CV1199833	single nucleotide variant	NM_000743.5(CHRNA3):c.268-64C>A	Urinary bladder, atony of [RCV001579081]\|not provided [RCV004715524]	benign	15	78617197	78617197	Human	1	name
156030204	CV2022623	single nucleotide variant	NM_000743.5(CHRNA3):c.223-14A>G	not provided [RCV002735777]	likely benign	15	78618675	78618675	Human		name
243053494	CV2404618	single nucleotide variant	NM_000743.5(CHRNA3):c.267+14C>T	Squamous cell carcinoma [RCV003129645]	uncertain significance	15	78618603	78618603	Human	2	name
405082663	CV2941862	single nucleotide variant	NM_000743.5(CHRNA3):c.378-18C>A	not provided [RCV003664647]	likely benign	15	78602282	78602282	Human		name
597731179	CV3714601	duplication	NM_000743.5(CHRNA3):c.377+10dup	Urinary bladder, atony of [RCV005011956]	uncertain significance	15	78617013	78617014	Human	1	name
597731190	CV3714602	single nucleotide variant	NM_000743.5(CHRNA3):c.268-19C>T	Urinary bladder, atony of [RCV005011957]	uncertain significance	15	78617152	78617152	Human	1	name
597731200	CV3714603	single nucleotide variant	NM_000743.5(CHRNA3):c.268-19C>G	Urinary bladder, atony of [RCV005011958]	uncertain significance	15	78617152	78617152	Human	1	name
597863130	CV3822766	single nucleotide variant	NM_000743.5(CHRNA3):c.377+14G>T	not provided [RCV005175298]	likely benign	15	78617010	78617010	Human		name
597972128	CV3829470	single nucleotide variant	NM_000743.5(CHRNA3):c.377+16G>A	not provided [RCV005167257]	likely benign	15	78617008	78617008	Human		name
597956427	CV3817967	single nucleotide variant	NM_000743.5(CHRNA3):c.1389+14T>C	not provided [RCV005162418]	likely benign	15	78601239	78601239	Human		name
156003566	CV1869648	single nucleotide variant	NM_000743.5(CHRNA3):c.377+1334T>C	not provided [RCV003076710]	benign	15	78615690	78615690	Human		name
155912519	CV1980286	single nucleotide variant	NM_000743.5(CHRNA3):c.6C>T (p.Gly2=)	not provided [RCV002614095]	benign	15	78620789	78620789	Human		name
243055982	CV2404668	single nucleotide variant	NM_001166694.2(CHRNA3):c.1390-614A>G	Lung adenocarcinoma [RCV003129695]	uncertain significance	15	78593805	78593805	Human	2	name
597731212	CV3714604	microsatellite	NM_000743.5(CHRNA3):c.267+3_267+6del	Urinary bladder, atony of [RCV005011959]	uncertain significance	15	78618611	78618614	Human		name
402490103	CV2866990	single nucleotide variant	NM_000743.5(CHRNA3):c.87C>T (p.Ala29=)	not provided [RCV003544810]	likely benign	15	78618911	78618911	Human		name
28876831	CV861405	single nucleotide variant	NM_000743.5(CHRNA3):c.1A>G (p.Met1Val)	Amyotrophic lateral sclerosis [RCV001095529]	likely pathogenic	15	78620794	78620794	Human	2	name
150413972	CV1199831	single nucleotide variant	NM_000743.5(CHRNA3):c.291A>G (p.Lys97=)	Urinary bladder, atony of [RCV001579079]\|not provided [RCV002573246]	benign	15	78617110	78617110	Human	1	name
150413707	CV1199834	single nucleotide variant	NM_000743.5(CHRNA3):c.159A>G (p.Val53=)	Urinary bladder, atony of [RCV001578888]\|not provided [RCV002569101]	benign	15	78618839	78618839	Human	13	name
156362803	CV1931846	single nucleotide variant	NM_000743.5(CHRNA3):c.198G>A (p.Val66=)	not provided [RCV002632794]	uncertain significance	15	78618800	78618800	Human		name
405068300	CV2944629	single nucleotide variant	NM_000743.5(CHRNA3):c.231A>T (p.Val77=)	not provided [RCV003663801]	likely benign	15	78618653	78618653	Human		name
597731246	CV3714607	single nucleotide variant	NM_000743.5(CHRNA3):c.228A>G (p.Glu76=)	Urinary bladder, atony of [RCV005011962]	uncertain significance	15	78618656	78618656	Human	1	name
597971361	CV3833001	single nucleotide variant	NM_000743.5(CHRNA3):c.249C>A (p.Thr83=)	not provided [RCV005166898]	likely benign	15	78618635	78618635	Human		name
156412850	CV1886971	single nucleotide variant	NM_000743.5(CHRNA3):c.471C>T (p.Ser157=)	not provided [RCV003073058]	likely benign	15	78602171	78602171	Human		name
155957502	CV1903702	single nucleotide variant	NM_000743.5(CHRNA3):c.999G>A (p.Pro333=)	not provided [RCV003095665]	likely benign	15	78601643	78601643	Human		name
156080420	CV2022702	deletion	NM_000743.5(CHRNA3):c.1390-21_1390-18del	not provided [RCV002760607]	benign	15	78596750	78596753	Human		name
155922187	CV2023912	single nucleotide variant	NM_000743.5(CHRNA3):c.615C>T (p.Gly205=)	not provided [RCV002750769]	likely benign	15	78602027	78602027	Human		name
155930622	CV2035032	single nucleotide variant	NM_000743.5(CHRNA3):c.957C>T (p.Ile319=)	not provided [RCV002751140]	likely benign	15	78601685	78601685	Human		name
156190289	CV2037907	single nucleotide variant	NM_000743.5(CHRNA3):c.50T>G (p.Leu17Arg)	not provided [RCV002765888]	uncertain significance	15	78620745	78620745	Human		name
156219246	CV2087563	deletion	NM_000743.5(CHRNA3):c.1390-22_1390-18del	not provided [RCV002875802]	likely benign	15	78596750	78596754	Human		name
156037838	CV2120100	single nucleotide variant	NM_000743.5(CHRNA3):c.954C>T (p.Ser318=)	not provided [RCV002949498]	likely benign	15	78601688	78601688	Human		name
156126334	CV2124916	single nucleotide variant	NM_000743.5(CHRNA3):c.576C>T (p.Ile192=)	not provided [RCV002953701]	likely benign	15	78602066	78602066	Human		name
156015249	CV2177412	single nucleotide variant	NM_000743.5(CHRNA3):c.345G>A (p.Lys115=)	not provided [RCV003035451]	benign	15	78617056	78617056	Human		name
243053459	CV2404606	inversion	NM_000743.5(CHRNA3):c.378-230_378-229inv	Lung adenocarcinoma [RCV003129633]	uncertain significance	15	78602493	78602494	Human		name
405069833	CV3037486	single nucleotide variant	NM_000743.5(CHRNA3):c.807C>T (p.Cys269=)	not provided [RCV003698252]	likely benign	15	78601835	78601835	Human		name
405250682	CV3053055	single nucleotide variant	NM_000743.5(CHRNA3):c.867G>A (p.Val289=)	Urinary bladder, atony of [RCV005003696]\|not provided [RCV003721689]	likely benign\|uncertain significance	15	78601775	78601775	Human	1	name
405244912	CV3054808	single nucleotide variant	NM_000743.5(CHRNA3):c.972C>T (p.Phe324=)	not provided [RCV003720129]	likely benign	15	78601670	78601670	Human		name
8600600	CV32542	single nucleotide variant	NM_000743.5(CHRNA3):c.645C>T (p.Tyr215=)	Lung cancer susceptibility 2 [RCV000019055]\|SMOKING AS A QUANTITATIVE TRAIT LOCUS 3 [RCV000033204]\|not provided [RCV002514114]	risk factor\|benign\|drug response	15	78601997	78601997	Human	14	name
597646463	CV3653352	single nucleotide variant	NM_000743.5(CHRNA3):c.46C>T (p.Arg16Trp)	Inborn genetic diseases [RCV004973807]	uncertain significance	15	78620749	78620749	Human	1	name
597632740	CV3714596	single nucleotide variant	NM_000743.5(CHRNA3):c.537C>G (p.Ser179=)	Urinary bladder, atony of [RCV005003230]	uncertain significance	15	78602105	78602105	Human	1	name
597731166	CV3714600	single nucleotide variant	NM_000743.5(CHRNA3):c.402C>T (p.Asp134=)	Urinary bladder, atony of [RCV005011955]	uncertain significance	15	78602240	78602240	Human	1	name
597731322	CV3714614	single nucleotide variant	NM_000743.5(CHRNA3):c.97G>A (p.Glu33Lys)	Urinary bladder, atony of [RCV005011969]	uncertain significance	15	78618901	78618901	Human	1	name
597949633	CV3772380	single nucleotide variant	NM_000743.5(CHRNA3):c.825G>A (p.Leu275=)	not provided [RCV005120699]	likely benign	15	78601817	78601817	Human		name
597876310	CV3829812	single nucleotide variant	NM_000743.5(CHRNA3):c.966C>T (p.Thr322=)	not provided [RCV005177520]	likely benign	15	78601676	78601676	Human		name
597956106	CV3838137	single nucleotide variant	NM_000743.5(CHRNA3):c.801C>T (p.Ser267=)	not provided [RCV005191512]	likely benign	15	78601841	78601841	Human		name
597966908	CV3855668	single nucleotide variant	NM_000743.5(CHRNA3):c.687C>T (p.Pro229=)	not provided [RCV005194648]	likely benign	15	78601955	78601955	Human		name
15107418	CV714630	single nucleotide variant	NM_000743.5(CHRNA3):c.627C>A (p.Ile209=)	not provided [RCV000960286]	benign	15	78602015	78602015	Human		name
15123409	CV739805	single nucleotide variant	NM_000743.5(CHRNA3):c.564T>C (p.Asp188=)	Urinary bladder, atony of [RCV002479027]\|not provided [RCV000896407]	benign\|likely benign	15	78602078	78602078	Human	1	name
15108325	CV754701	single nucleotide variant	NM_000743.5(CHRNA3):c.981C>T (p.Asn327=)	not provided [RCV000916121]	likely benign	15	78601661	78601661	Human		name
15140320	CV754702	single nucleotide variant	NM_000743.5(CHRNA3):c.459C>T (p.Ala153=)	Urinary bladder, atony of [RCV002479071]\|not provided [RCV000921660]	likely benign	15	78602183	78602183	Human	1	name
155940700	CV1913741	single nucleotide variant	NM_000743.5(CHRNA3):c.1347G>A (p.Lys449=)	not provided [RCV002615614]	likely benign	15	78601295	78601295	Human		name
156368724	CV1922607	single nucleotide variant	NM_000743.5(CHRNA3):c.1488G>A (p.Leu496=)	not provided [RCV002633208]	likely benign	15	78596634	78596634	Human		name
156446311	CV1951347	single nucleotide variant	NM_000743.5(CHRNA3):c.1107G>A (p.Pro369=)	not provided [RCV003117283]	likely benign	15	78601535	78601535	Human		name
156011691	CV2079870	single nucleotide variant	NM_000743.5(CHRNA3):c.110G>A (p.Arg37His)	not provided [RCV002866142]	benign	15	78618888	78618888	Human		name
156084667	CV2395241	single nucleotide variant	NM_000743.5(CHRNA3):c.151C>T (p.Arg51Trp)	Inborn genetic diseases [RCV002783940]	uncertain significance	15	78618847	78618847	Human	1	name
405149821	CV2892051	single nucleotide variant	NM_000743.5(CHRNA3):c.1383C>T (p.Ala461=)	not provided [RCV003561647]	benign	15	78601259	78601259	Human		name
405254002	CV3174929	single nucleotide variant	NM_000743.5(CHRNA3):c.1332C>T (p.Ala444=)	not provided [RCV003871381]	likely benign	15	78601310	78601310	Human		name
405672021	CV3297294	single nucleotide variant	NM_000743.5(CHRNA3):c.283A>G (p.Lys95Glu)	Inborn genetic diseases [RCV004441475]	uncertain significance	15	78617118	78617118	Human	1	name
408371327	CV3503783	duplication	NM_000743.5(CHRNA3):c.518dup (p.Cys173fs)	CHRNA3-related disorder [RCV004724641]	likely pathogenic	15	78602123	78602124	Human		name , trait , alternate_id
597646438	CV3653345	single nucleotide variant	NM_000743.5(CHRNA3):c.279C>G (p.Asp93Glu)	Inborn genetic diseases [RCV004973801]	uncertain significance	15	78617122	78617122	Human	1	name
597646443	CV3653346	single nucleotide variant	NM_000743.5(CHRNA3):c.121C>T (p.Arg41Trp)	Inborn genetic diseases [RCV004973802]	uncertain significance	15	78618877	78618877	Human	1	name
597628383	CV3653348	single nucleotide variant	NM_000743.5(CHRNA3):c.275A>G (p.Asn92Ser)	Inborn genetic diseases [RCV004973804]\|Urinary bladder, atony of [RCV005006617]	uncertain significance	15	78617126	78617126	Human	2	name
597731223	CV3714605	single nucleotide variant	NM_000743.5(CHRNA3):c.262A>T (p.Lys88Ter)	Urinary bladder, atony of [RCV005011960]	likely pathogenic	15	78618622	78618622	Human	1	name
597731234	CV3714606	single nucleotide variant	NM_000743.5(CHRNA3):c.262A>G (p.Lys88Glu)	Urinary bladder, atony of [RCV005011961]	uncertain significance	15	78618622	78618622	Human	1	name
597731266	CV3714609	single nucleotide variant	NM_000743.5(CHRNA3):c.218A>G (p.Lys73Arg)	Urinary bladder, atony of [RCV005011964]	uncertain significance	15	78618780	78618780	Human	1	name
597731276	CV3714610	single nucleotide variant	NM_000743.5(CHRNA3):c.200C>T (p.Ser67Phe)	Urinary bladder, atony of [RCV005011965]	uncertain significance	15	78618798	78618798	Human	1	name
597731287	CV3714611	single nucleotide variant	NM_000743.5(CHRNA3):c.179T>C (p.Val60Ala)	Urinary bladder, atony of [RCV005011966]	uncertain significance	15	78618819	78618819	Human	1	name
597731299	CV3714612	single nucleotide variant	NM_000743.5(CHRNA3):c.146T>A (p.Ile49Asn)	Urinary bladder, atony of [RCV005011967]	uncertain significance	15	78618852	78618852	Human	1	name
597731310	CV3714613	single nucleotide variant	NM_000743.5(CHRNA3):c.110G>C (p.Arg37Pro)	Urinary bladder, atony of [RCV005011968]	uncertain significance	15	78618888	78618888	Human	1	name
597969786	CV3791707	single nucleotide variant	NM_000743.5(CHRNA3):c.1039T>C (p.Leu347=)	not provided [RCV005141524]	likely benign	15	78601603	78601603	Human		name
597945999	CV3841551	single nucleotide variant	NM_000743.5(CHRNA3):c.1086C>T (p.Asn362=)	not provided [RCV005188984]	likely benign	15	78601556	78601556	Human		name
15123403	CV739803	single nucleotide variant	NM_000743.5(CHRNA3):c.1197C>T (p.Asp399=)	Urinary bladder, atony of [RCV002495424]\|not provided [RCV000896406]	benign\|likely benign	15	78601445	78601445	Human	1	name
15134326	CV754700	single nucleotide variant	NM_000743.5(CHRNA3):c.1113C>G (p.Pro371=)	not provided [RCV000920666]	likely benign	15	78601529	78601529	Human		name
28876819	CV861402	deletion	NM_000743.5(CHRNA3):c.725del (p.Leu242fs)	Amyotrophic lateral sclerosis [RCV001095526]	likely pathogenic	15	78601917	78601917	Human	2	name
156158463	CV2033692	single nucleotide variant	NM_000743.5(CHRNA3):c.763A>G (p.Ile255Val)	not provided [RCV002741458]	uncertain significance	15	78601879	78601879	Human		name
156094837	CV2102856	single nucleotide variant	NM_000743.5(CHRNA3):c.649C>T (p.His217Tyr)	not provided [RCV002913175]	uncertain significance	15	78601993	78601993	Human		name
156037114	CV2143263	single nucleotide variant	NM_000743.5(CHRNA3):c.554C>T (p.Ala185Val)	not provided [RCV002999376]	uncertain significance	15	78602088	78602088	Human		name
155985424	CV2247864	single nucleotide variant	NM_000743.5(CHRNA3):c.958G>A (p.Val320Ile)	Inborn genetic diseases [RCV002778089]	uncertain significance	15	78601684	78601684	Human	1	name
329388784	CV2469571	single nucleotide variant	NM_000743.5(CHRNA3):c.653A>T (p.Asp218Val)	Inborn genetic diseases [RCV003215969]	uncertain significance	15	78601989	78601989	Human	1	name
401916397	CV2814394	single nucleotide variant	NM_000743.5(CHRNA3):c.936G>A (p.Met312Ile)	not provided [RCV003400969]	uncertain significance	15	78601706	78601706	Human		name
405672026	CV3297295	single nucleotide variant	NM_000743.5(CHRNA3):c.299C>T (p.Pro100Leu)	Inborn genetic diseases [RCV004441476]	uncertain significance	15	78617102	78617102	Human	1	name
405672030	CV3297296	single nucleotide variant	NM_000743.5(CHRNA3):c.577G>A (p.Gly193Ser)	Inborn genetic diseases [RCV004441477]	uncertain significance	15	78602065	78602065	Human	1	name
407455851	CV3422857	single nucleotide variant	NM_000743.5(CHRNA3):c.697T>C (p.Tyr233His)	Inborn genetic diseases [RCV004610486]	uncertain significance	15	78601945	78601945	Human	1	name
597646449	CV3653347	deletion	NM_000743.5(CHRNA3):c.1103del (p.Lys368fs)	Inborn genetic diseases [RCV004973803]	pathogenic	15	78601539	78601539	Human	1	name
597646459	CV3653351	single nucleotide variant	NM_000743.5(CHRNA3):c.427T>A (p.Tyr143Asn)	Inborn genetic diseases [RCV004973806]	uncertain significance	15	78602215	78602215	Human	1	name
597646470	CV3653353	single nucleotide variant	NM_000743.5(CHRNA3):c.655A>T (p.Ile219Phe)	Inborn genetic diseases [RCV004973808]	uncertain significance	15	78601987	78601987	Human	1	name
597731054	CV3714580	single nucleotide variant	NM_000743.5(CHRNA3):c.980A>G (p.Asn327Ser)	Urinary bladder, atony of [RCV005011945]	uncertain significance	15	78601662	78601662	Human	1	name
597632711	CV3714582	single nucleotide variant	NM_000743.5(CHRNA3):c.959T>C (p.Val320Ala)	Urinary bladder, atony of [RCV005003223]	uncertain significance	15	78601683	78601683	Human	1	name
597632716	CV3714583	single nucleotide variant	NM_000743.5(CHRNA3):c.913G>T (p.Gly305Ter)	Urinary bladder, atony of [RCV005003224]	likely pathogenic	15	78601729	78601729	Human	1	name
597632719	CV3714584	single nucleotide variant	NM_000743.5(CHRNA3):c.851C>T (p.Thr284Met)	Urinary bladder, atony of [RCV005003225]	uncertain significance	15	78601791	78601791	Human	1	name
597632724	CV3714585	single nucleotide variant	NM_000743.5(CHRNA3):c.808G>A (p.Gly270Ser)	Urinary bladder, atony of [RCV005003226]	uncertain significance	15	78601834	78601834	Human	1	name
597632728	CV3714586	single nucleotide variant	NM_000743.5(CHRNA3):c.749T>A (p.Ile250Asn)	Urinary bladder, atony of [RCV005003227]	uncertain significance	15	78601893	78601893	Human	1	name
597731065	CV3714587	single nucleotide variant	NM_000743.5(CHRNA3):c.713G>A (p.Arg238Gln)	Urinary bladder, atony of [RCV005011946]	uncertain significance	15	78601929	78601929	Human	1	name
597731076	CV3714588	single nucleotide variant	NM_000743.5(CHRNA3):c.648A>C (p.Lys216Asn)	Urinary bladder, atony of [RCV005011947]	uncertain significance	15	78601994	78601994	Human	1	name
597731088	CV3714590	single nucleotide variant	NM_000743.5(CHRNA3):c.635C>T (p.Ala212Val)	Urinary bladder, atony of [RCV005011948]	uncertain significance	15	78602007	78602007	Human	1	name
597632732	CV3714591	single nucleotide variant	NM_000743.5(CHRNA3):c.584C>T (p.Ser195Phe)	Urinary bladder, atony of [RCV005003228]	uncertain significance	15	78602058	78602058	Human	1	name
597731099	CV3714592	single nucleotide variant	NM_000743.5(CHRNA3):c.578G>A (p.Gly193Asp)	Urinary bladder, atony of [RCV005011949]	uncertain significance	15	78602064	78602064	Human	1	name
597731111	CV3714593	single nucleotide variant	NM_000743.5(CHRNA3):c.560T>C (p.Ile187Thr)	Urinary bladder, atony of [RCV005011950]	uncertain significance	15	78602082	78602082	Human	1	name
597731124	CV3714594	single nucleotide variant	NM_000743.5(CHRNA3):c.552G>T (p.Lys184Asn)	Urinary bladder, atony of [RCV005011951]	uncertain significance	15	78602090	78602090	Human	1	name
597632736	CV3714595	single nucleotide variant	NM_000743.5(CHRNA3):c.547G>A (p.Asp183Asn)	Urinary bladder, atony of [RCV005003229]	uncertain significance	15	78602095	78602095	Human	1	name
597731135	CV3714597	single nucleotide variant	NM_000743.5(CHRNA3):c.473C>T (p.Ser158Phe)	Urinary bladder, atony of [RCV005011952]	uncertain significance	15	78602169	78602169	Human	1	name
597731147	CV3714598	single nucleotide variant	NM_000743.5(CHRNA3):c.455C>T (p.Pro152Leu)	Urinary bladder, atony of [RCV005011953]	uncertain significance	15	78602187	78602187	Human	1	name
597731156	CV3714599	single nucleotide variant	NM_000743.5(CHRNA3):c.405C>G (p.Asp135Glu)	Urinary bladder, atony of [RCV005011954]	uncertain significance	15	78602237	78602237	Human	1	name
598218443	CV3895505	single nucleotide variant	NM_000743.5(CHRNA3):c.539G>A (p.Trp180Ter)	Urinary bladder, atony of [RCV005360364]	likely pathogenic	15	78602103	78602103	Human	1	name
598215343	CV3951750	single nucleotide variant	NM_000743.5(CHRNA3):c.410C>T (p.Thr137Ile)	Inborn genetic diseases [RCV005316732]	uncertain significance	15	78602232	78602232	Human	1	name
598215354	CV3951753	single nucleotide variant	NM_000743.5(CHRNA3):c.380C>T (p.Ala127Val)	Inborn genetic diseases [RCV005316735]	uncertain significance	15	78602262	78602262	Human	1	name
21069309	CV792608	single nucleotide variant	NM_000743.5(CHRNA3):c.688G>A (p.Asp230Asn)	CHRNA3-related disorder [RCV000991221]\|Urinary bladder, atony of [RCV005012419]	uncertain significance	15	78601954	78601954	Human	1	name , trait , alternate_id
28876815	CV861401	single nucleotide variant	NM_000743.5(CHRNA3):c.752C>G (p.Pro251Arg)	Amyotrophic lateral sclerosis [RCV001095525]	uncertain significance	15	78601890	78601890	Human	2	name
150330597	CV1168695	single nucleotide variant	NM_000743.5(CHRNA3):c.1099C>T (p.Gln367Ter)	Urinary bladder, atony of [RCV001535888]	likely pathogenic	15	78601543	78601543	Human	1	name
150413710	CV1199836	microsatellite	NM_000743.5(CHRNA3):c.49CTG[6] (p.Leu23del)	Urinary bladder, atony of [RCV001578890]\|not provided [RCV002568510]	benign	15	78620726	78620728	Human		name
156390340	CV1872620	single nucleotide variant	NM_000743.5(CHRNA3):c.1001C>A (p.Thr334Lys)	Inborn genetic diseases [RCV003269404]\|Urinary bladder, atony of [RCV005010928]\|not provided [RCV003051243]	uncertain significance	15	78601641	78601641	Human	2	name
156098646	CV1920586	single nucleotide variant	NM_000743.5(CHRNA3):c.1352T>C (p.Ile451Thr)	CHRNA3-related disorder [RCV003926729]\|not provided [RCV002592189]	likely benign	15	78601290	78601290	Human	1	name , trait , alternate_id
156349710	CV2125509	single nucleotide variant	NM_000743.5(CHRNA3):c.1163C>T (p.Ser388Phe)	Urinary bladder, atony of [RCV005002911]\|not provided [RCV002966208]	likely benign	15	78601479	78601479	Human	1	name
156264790	CV2139831	single nucleotide variant	NM_000743.5(CHRNA3):c.1259C>T (p.Thr420Met)	not provided [RCV003009054]	likely benign	15	78601383	78601383	Human		name
156142124	CV2192028	single nucleotide variant	NM_000743.5(CHRNA3):c.1459T>A (p.Cys487Ser)	not provided [RCV003056223]	uncertain significance	15	78596663	78596663	Human		name
155960859	CV2204380	single nucleotide variant	NM_000743.5(CHRNA3):c.1169G>C (p.Gly390Ala)	Inborn genetic diseases [RCV002686600]\|Urinary bladder, atony of [RCV005002982]	uncertain significance	15	78601473	78601473	Human	2	name
156253143	CV2232478	single nucleotide variant	NM_000743.5(CHRNA3):c.1478G>C (p.Gly493Ala)	Inborn genetic diseases [RCV002714101]\|Urinary bladder, atony of [RCV005002986]	uncertain significance	15	78596644	78596644	Human	2	name
156005860	CV2290415	single nucleotide variant	NM_000743.5(CHRNA3):c.1429C>A (p.Arg477Ser)	Inborn genetic diseases [RCV002883664]	uncertain significance	15	78596693	78596693	Human	1	name
156101379	CV2313479	single nucleotide variant	NM_000743.5(CHRNA3):c.1493C>T (p.Pro498Leu)	Inborn genetic diseases [RCV002888651]\|Urinary bladder, atony of [RCV005011155]	uncertain significance	15	78596629	78596629	Human	2	name
156048070	CV2315740	single nucleotide variant	NM_000743.5(CHRNA3):c.1057G>A (p.Val353Ile)	Inborn genetic diseases [RCV002924300]\|Urinary bladder, atony of [RCV005002999]	uncertain significance	15	78601585	78601585	Human	2	name
156105915	CV2387046	single nucleotide variant	NM_000743.5(CHRNA3):c.1090G>C (p.Gly364Arg)	Inborn genetic diseases [RCV002739394]	uncertain significance	15	78601552	78601552	Human	1	name
401748461	CV2704299	single nucleotide variant	NM_000743.5(CHRNA3):c.1097C>T (p.Ala366Val)	Inborn genetic diseases [RCV003294679]	uncertain significance	15	78601545	78601545	Human	1	name
401894655	CV2785138	single nucleotide variant	NM_000743.5(CHRNA3):c.1430G>A (p.Arg477His)	Inborn genetic diseases [RCV003371738]\|Urinary bladder, atony of [RCV005012908]	uncertain significance	15	78596692	78596692	Human	2	name
407455848	CV3422856	single nucleotide variant	NM_000743.5(CHRNA3):c.1150A>G (p.Ser384Gly)	Inborn genetic diseases [RCV004610485]	uncertain significance	15	78601492	78601492	Human	1	name
597632087	CV3653344	single nucleotide variant	NM_000743.5(CHRNA3):c.1443G>A (p.Trp481Ter)	Inborn genetic diseases [RCV004967838]	uncertain significance	15	78596679	78596679	Human	1	name
597646474	CV3653354	single nucleotide variant	NM_000743.5(CHRNA3):c.1012A>G (p.Met338Val)	Inborn genetic diseases [RCV004973809]	uncertain significance	15	78601630	78601630	Human	1	name
597646479	CV3653355	single nucleotide variant	NM_000743.5(CHRNA3):c.1272T>G (p.Ser424Arg)	Inborn genetic diseases [RCV004973810]	uncertain significance	15	78601370	78601370	Human	1	name
597632662	CV3704336	single nucleotide variant	NM_000743.5(CHRNA3):c.1475C>T (p.Ala492Val)	Urinary bladder, atony of [RCV005003212]	uncertain significance	15	78596647	78596647	Human	1	name
597730963	CV3704337	single nucleotide variant	NM_000743.5(CHRNA3):c.1465C>A (p.Leu489Ile)	Urinary bladder, atony of [RCV005011937]	uncertain significance	15	78596657	78596657	Human	1	name
597730974	CV3704338	single nucleotide variant	NM_000743.5(CHRNA3):c.1462A>C (p.Ile488Leu)	Urinary bladder, atony of [RCV005011938]	uncertain significance	15	78596660	78596660	Human	1	name
597632668	CV3704339	single nucleotide variant	NM_000743.5(CHRNA3):c.1403G>T (p.Trp468Leu)	Urinary bladder, atony of [RCV005003213]	uncertain significance	15	78596719	78596719	Human	1	name
597632673	CV3704341	single nucleotide variant	NM_000743.5(CHRNA3):c.1381G>A (p.Ala461Thr)	Urinary bladder, atony of [RCV005003214]	uncertain significance	15	78601261	78601261	Human	1	name
597730986	CV3704342	single nucleotide variant	NM_000743.5(CHRNA3):c.1370C>T (p.Ala457Val)	Urinary bladder, atony of [RCV005011939]	uncertain significance	15	78601272	78601272	Human	1	name
597632677	CV3704343	single nucleotide variant	NM_000743.5(CHRNA3):c.1355C>T (p.Ala452Val)	Urinary bladder, atony of [RCV005003215]	uncertain significance	15	78601287	78601287	Human	1	name
597730998	CV3704345	single nucleotide variant	NM_000743.5(CHRNA3):c.1226G>A (p.Arg409Lys)	Urinary bladder, atony of [RCV005011940]	uncertain significance	15	78601416	78601416	Human	1	name
597632686	CV3704346	single nucleotide variant	NM_000743.5(CHRNA3):c.1222C>T (p.Arg408Cys)	Urinary bladder, atony of [RCV005003217]	uncertain significance	15	78601420	78601420	Human	1	name
597632690	CV3704347	single nucleotide variant	NM_000743.5(CHRNA3):c.1211A>G (p.Tyr404Cys)	Urinary bladder, atony of [RCV005003218]	uncertain significance	15	78601431	78601431	Human	1	name
597731010	CV3704348	single nucleotide variant	NM_000743.5(CHRNA3):c.1198G>A (p.Gly400Arg)	Urinary bladder, atony of [RCV005011941]	uncertain significance	15	78601444	78601444	Human	1	name
597632694	CV3714573	single nucleotide variant	NM_000743.5(CHRNA3):c.1156G>A (p.Ala386Thr)	Urinary bladder, atony of [RCV005003219]	uncertain significance	15	78601486	78601486	Human	1	name
597731020	CV3714574	single nucleotide variant	NM_000743.5(CHRNA3):c.1153C>T (p.Arg385Cys)	Urinary bladder, atony of [RCV005011942]	uncertain significance	15	78601489	78601489	Human	1	name
597632699	CV3714575	single nucleotide variant	NM_000743.5(CHRNA3):c.1138C>G (p.Leu380Val)	Inborn genetic diseases [RCV005323677]\|Urinary bladder, atony of [RCV005003220]	uncertain significance	15	78601504	78601504	Human	2	name
597731030	CV3714576	single nucleotide variant	NM_000743.5(CHRNA3):c.1121G>A (p.Gly374Asp)	Urinary bladder, atony of [RCV005011943]	uncertain significance	15	78601521	78601521	Human	1	name
597731042	CV3714577	single nucleotide variant	NM_000743.5(CHRNA3):c.1106C>T (p.Pro369Leu)	Urinary bladder, atony of [RCV005011944]	uncertain significance	15	78601536	78601536	Human	1	name
597632703	CV3714578	single nucleotide variant	NM_000743.5(CHRNA3):c.1075C>T (p.Pro359Ser)	Urinary bladder, atony of [RCV005003221]	uncertain significance	15	78601567	78601567	Human	1	name
597632706	CV3714579	single nucleotide variant	NM_000743.5(CHRNA3):c.1014G>T (p.Met338Ile)	Urinary bladder, atony of [RCV005003222]	uncertain significance	15	78601628	78601628	Human	1	name
597901665	CV3845476	single nucleotide variant	NM_000743.5(CHRNA3):c.1495C>A (p.Leu499Met)	not provided [RCV005181286]	likely benign	15	78596627	78596627	Human		name
598215348	CV3951751	single nucleotide variant	NM_000743.5(CHRNA3):c.1102A>G (p.Lys368Glu)	Inborn genetic diseases [RCV005316733]	uncertain significance	15	78601540	78601540	Human	1	name
598215349	CV3951752	single nucleotide variant	NM_000743.5(CHRNA3):c.1078A>T (p.Thr360Ser)	Inborn genetic diseases [RCV005316734]	uncertain significance	15	78601564	78601564	Human	1	name
12902122	CV409351	single nucleotide variant	NM_000743.5(CHRNA3):c.1472C>T (p.Thr491Ile)	not provided [RCV000486332]	uncertain significance	15	78596650	78596650	Human		name
15110687	CV714629	single nucleotide variant	NM_000743.5(CHRNA3):c.1120G>A (p.Gly374Ser)	not provided [RCV000960953]	likely benign	15	78601522	78601522	Human		name
15151062	CV739804	single nucleotide variant	NM_000743.5(CHRNA3):c.1112C>T (p.Pro371Leu)	not provided [RCV000901285]	benign	15	78601530	78601530	Human		name
15197409	CV754699	single nucleotide variant	NM_000743.5(CHRNA3):c.1243T>G (p.Phe415Val)	not provided [RCV000911966]	benign	15	78601399	78601399	Human		name
21069919	CV794168	single nucleotide variant	NM_000743.5(CHRNA3):c.1019C>G (p.Ser340Ter)	Urinary bladder, atony of [RCV000993665]	pathogenic	15	78601623	78601623	Human	1	name
155795074	CV1858915	deletion	NM_000743.5(CHRNA3):c.518_519del (p.Cys173fs)	Urinary bladder, atony of [RCV002463880]	pathogenic	15	78602123	78602124	Human	1	name
12899488	CV409352	deletion	NM_000743.5(CHRNA3):c.907_908del (p.Leu303fs)	CHRNA3-related disorder [RCV000991220]\|Urinary bladder, atony of [RCV005004185]\|not provided [RCV000480331]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	15	78601734	78601735	Human	1	name , trait , alternate_id
28876826	CV861404	insertion	NM_000743.5(CHRNA3):c.247_248insG (p.Thr83fs)	Amyotrophic lateral sclerosis [RCV001095528]	likely pathogenic	15	78618636	78618637	Human	2	name
8635585	CV90807	single nucleotide variant	NM_001166694.1(CHRNA3):c.340C>T (p.Gln114Ter)	Malignant melanoma [RCV000070905]	not provided	15	78617061	78617061	Human		name
28876823	CV861403	insertion	NM_000743.5(CHRNA3):c.708_709insG (p.Ile237fs)	Amyotrophic lateral sclerosis [RCV001095527]	likely pathogenic	15	78601933	78601934	Human	2	name
597632682	CV3704344	microsatellite	NM_000743.5(CHRNA3):c.1304_1305del (p.Ser435fs)	Urinary bladder, atony of [RCV005003216]	likely pathogenic	15	78601337	78601338	Human		name
21070889	CV794167	microsatellite	NM_000743.5(CHRNA3):c.1010_1011del (p.Thr337fs)	Urinary bladder, atony of [RCV000993664]	pathogenic	15	78601631	78601632	Human		name
156263104	CV1913740	deletion	NM_000743.5(CHRNA3):c.1351_1353del (p.Ile451del)	not provided [RCV002627835]	uncertain significance	15	78601289	78601291	Human		name
408368430	CV3512125	microsatellite	NM_000743.5(CHRNA3):c.49CTG[5] (p.Leu22_Leu23del)	CHRNA3-related disorder [RCV004735176]	likely benign	15	78620726	78620731	Human		name , trait , alternate_id
156078600	CV2022519	microsatellite	NM_000743.5(CHRNA3):c.49CTG[8] (p.Leu23_Ser24insLeu)	not provided [RCV002760550]	benign	15	78620725	78620726	Human		name
156028490	CV2022525	deletion	NM_000743.5(CHRNA3):c.1495del (p.Pro498_Leu499insTer)	Urinary bladder, atony of [RCV005002879]\|not provided [RCV002735702]	uncertain significance	15	78596627	78596627	Human	1	name
156136644	CV2032749	microsatellite	NM_000743.5(CHRNA3):c.49CTG[9] (p.Leu23_Ser24insLeuLeu)	not provided [RCV002740753]	uncertain significance	15	78620725	78620726	Human		name

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