List of variants in gene GAN studied for Inborn genetic diseases

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 87

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HGVS	dbSNP	gnomAD frequency
NM_022041.4(GAN):c.1182C>T (p.Tyr394=)	rs150102659	0.00357
NM_022041.4(GAN):c.1445C>T (p.Ala482Val)	rs146576740	0.00169
NM_022041.4(GAN):c.1162C>T (p.Leu388=)	rs73589395	0.00103
NM_022041.4(GAN):c.355A>T (p.Thr119Ser)	rs141396595	0.00086
NM_022041.4(GAN):c.730A>G (p.Ile244Val)	rs200749953	0.00051
NM_022041.4(GAN):c.358C>T (p.Leu120=)	rs113655220	0.00044
NM_022041.4(GAN):c.973+6G>A	rs372665411	0.00044
NM_022041.4(GAN):c.944C>T (p.Pro315Leu)	rs144486241	0.00011
NM_022041.4(GAN):c.1511A>G (p.Tyr504Cys)	rs147864771	0.00010
NM_022041.4(GAN):c.1630G>A (p.Val544Met)	rs200071978	0.00010
NM_022041.4(GAN):c.1199C>G (p.Thr400Ser)	rs368571975	0.00009
NM_022041.4(GAN):c.945G>A (p.Pro315=)	rs139230642	0.00009
NM_022041.4(GAN):c.671C>T (p.Ser224Leu)	rs554667758	0.00008
NM_022041.4(GAN):c.1327C>A (p.Pro443Thr)	rs150043237	0.00006
NM_022041.4(GAN):c.1444G>A (p.Ala482Thr)	rs369693274	0.00006
NM_022041.4(GAN):c.1065A>C (p.Thr355=)	rs370426264	0.00004
NM_022041.4(GAN):c.1715C>G (p.Ala572Gly)	rs778978997	0.00004
NM_022041.4(GAN):c.444C>T (p.His148=)	rs764605890	0.00004
NM_022041.4(GAN):c.445G>A (p.Val149Ile)	rs369703737	0.00004
NM_022041.4(GAN):c.682T>C (p.Ser228Pro)	rs150589329	0.00004
NM_022041.4(GAN):c.1778G>A (p.Arg593His)	rs751430474	0.00003
NM_022041.4(GAN):c.345G>A (p.Thr115=)	rs768322742	0.00003
NM_022041.4(GAN):c.479A>G (p.His160Arg)	rs373474009	0.00003
NM_022041.4(GAN):c.564C>T (p.Asn188=)	rs201884522	0.00003
NM_022041.4(GAN):c.805C>T (p.Arg269Trp)	rs776397915	0.00003
NM_022041.4(GAN):c.1045C>T (p.Pro349Ser)	rs374004725	0.00002
NM_022041.4(GAN):c.1132A>G (p.Ile378Val)	rs571347913	0.00002
NM_022041.4(GAN):c.1368G>C (p.Glu456Asp)	rs1034754708	0.00002
NM_022041.4(GAN):c.1388C>T (p.Ala463Val)	rs200342055	0.00002
NM_022041.4(GAN):c.1518C>T (p.Asn506=)	rs886052333	0.00002
NM_022041.4(GAN):c.1678C>T (p.Leu560Phe)	rs143179676	0.00002
NM_022041.4(GAN):c.330C>T (p.Asp110=)	rs200045368	0.00002
NM_022041.4(GAN):c.761G>A (p.Ser254Asn)	rs748422716	0.00002
NM_022041.4(GAN):c.1436G>A (p.Arg479His)	rs750919773	0.00001
NM_022041.4(GAN):c.1456G>A (p.Glu486Lys)	rs119485088	0.00001
NM_022041.4(GAN):c.1499A>G (p.Lys500Arg)	rs199515586	0.00001
NM_022041.4(GAN):c.1590T>C (p.Tyr530=)	rs1474222234	0.00001
NM_022041.4(GAN):c.1596T>C (p.Ile532=)	rs371157573	0.00001
NM_022041.4(GAN):c.244G>C (p.Val82Leu)	rs371054532	0.00001
NM_022041.4(GAN):c.545T>A (p.Ile182Asn)	rs1258332075	0.00001
NM_022041.4(GAN):c.572A>G (p.Asn191Ser)	rs139748896	0.00001
NM_022041.4(GAN):c.638A>G (p.His213Arg)	rs749117247	0.00001
NM_022041.4(GAN):c.715C>G (p.Pro239Ala)	rs184128641	0.00001
NM_022041.4(GAN):c.741G>A (p.Glu247=)	rs781606880	0.00001
NM_022041.4(GAN):c.743G>A (p.Cys248Tyr)	rs377034780	0.00001
NM_022041.4(GAN):c.801A>G (p.Lys267=)	rs746799355	0.00001
NM_022041.4(GAN):c.806G>A (p.Arg269Gln)	rs759581558	0.00001
NM_022041.4(GAN):c.851+1G>A	rs747291494	0.00001
NM_022041.4(GAN):c.1084G>C (p.Glu362Gln)
NM_022041.4(GAN):c.1086+6A>T
NM_022041.4(GAN):c.1112_1124delinsGA (p.Glu371fs)
NM_022041.4(GAN):c.1183G>A (p.Asp395Asn)	rs142456623
NM_022041.4(GAN):c.1184A>G (p.Asp395Gly)
NM_022041.4(GAN):c.1209G>T (p.Lys403Asn)
NM_022041.4(GAN):c.1214C>G (p.Pro405Arg)
NM_022041.4(GAN):c.1240G>A (p.Gly414Ser)
NM_022041.4(GAN):c.1273G>A (p.Ala425Thr)
NM_022041.4(GAN):c.1287C>G (p.Gly429=)	rs563049431
NM_022041.4(GAN):c.1327C>G (p.Pro443Ala)	rs150043237
NM_022041.4(GAN):c.1334C>T (p.Thr445Ile)
NM_022041.4(GAN):c.1362A>G (p.Leu454=)	rs1057521345
NM_022041.4(GAN):c.1373+4C>T	rs137934652
NM_022041.4(GAN):c.1521C>G (p.Asp507Glu)
NM_022041.4(GAN):c.1570C>T (p.Pro524Ser)
NM_022041.4(GAN):c.1593T>G (p.Val531=)	rs141592516
NM_022041.4(GAN):c.1665C>G (p.His555Gln)	rs886052334
NM_022041.4(GAN):c.1758G>C (p.Gln586His)
NM_022041.4(GAN):c.1780G>T (p.Val594Phe)
NM_022041.4(GAN):c.1792del (p.Ter598GluextTer?)	rs755084684
NM_022041.4(GAN):c.283-3T>A	rs1910414763
NM_022041.4(GAN):c.288G>T (p.Arg96Ser)
NM_022041.4(GAN):c.304A>C (p.Ile102Leu)
NM_022041.4(GAN):c.306C>G (p.Ile102Met)
NM_022041.4(GAN):c.356C>T (p.Thr119Ile)
NM_022041.4(GAN):c.432C>G (p.Tyr144Ter)	rs1555511101
NM_022041.4(GAN):c.485G>A (p.Arg162Gln)
NM_022041.4(GAN):c.521G>A (p.Ser174Asn)
NM_022041.4(GAN):c.523C>T (p.Pro175Ser)
NM_022041.4(GAN):c.530A>G (p.Lys177Arg)
NM_022041.4(GAN):c.614A>G (p.His205Arg)
NM_022041.4(GAN):c.641T>C (p.Met214Thr)
NM_022041.4(GAN):c.660T>C (p.Ala220=)	rs1555511259
NM_022041.4(GAN):c.830C>G (p.Thr277Ser)
NM_022041.4(GAN):c.857G>A (p.Arg286Gln)	rs922025345
NM_022041.4(GAN):c.860A>G (p.Lys287Arg)
NM_022041.4(GAN):c.863C>T (p.Pro288Leu)
NM_022041.4(GAN):c.973G>A (p.Glu325Lys)	rs1597403411

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