ClinVar Miner

List of variants in gene GFM2 studied for not specified

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_032380.5(GFM2):c.191A>G (p.Asn64Ser) rs957680 0.18064
NM_032380.5(GFM2):c.1221-3C>T rs7732843 0.16502
NM_032380.5(GFM2):c.2321G>A (p.Arg774Gln) rs1048167 0.15124
NM_032380.5(GFM2):c.459G>A (p.Glu153=) rs17852781 0.14390
NM_032380.5(GFM2):c.898A>T (p.Ser300Cys) rs16872235 0.13722
NM_032380.5(GFM2):c.915G>A (p.Leu305=) rs35565659 0.02606
NM_032380.5(GFM2):c.2230C>G (p.Arg744Gly) rs35080306 0.01444
NM_032380.5(GFM2):c.43A>G (p.Ile15Val) rs79992455 0.00818
NM_032380.5(GFM2):c.1726+14C>T rs149505551 0.00742
NM_032380.5(GFM2):c.1912+11C>T rs115273629 0.00392
NM_032380.5(GFM2):c.1718G>A (p.Arg573His) rs143461990 0.00278
NM_032380.5(GFM2):c.1880T>C (p.Ile627Thr) rs34845453 0.00262
NM_032380.5(GFM2):c.178C>A (p.His60Asn) rs77099085 0.00122
NM_032380.5(GFM2):c.1220+9A>C rs201204413 0.00024
NM_032380.5(GFM2):c.1188G>A (p.Gln396=) rs147925896 0.00003
NM_032380.5(GFM2):c.1815T>C (p.Pro605=) rs201580206 0.00003
NM_032380.5(GFM2):c.2020G>A (p.Val674Met) rs367960522 0.00003
NM_032380.5(GFM2):c.431-3T>C rs369071633 0.00003
NM_032380.5(GFM2):c.850-18T>A rs545845572 0.00003
NM_032380.5(GFM2):c.1359T>C (p.Ser453=) rs1554039350 0.00001
NM_032380.5(GFM2):c.1806T>A (p.Ser602=) rs369168318 0.00001
NM_032380.5(GFM2):c.109C>T (p.Pro37Ser) rs138677794
NM_032380.5(GFM2):c.13_14del (p.Leu5fs) rs1412568004
NM_032380.5(GFM2):c.2247dup (p.Ser750fs)
NM_032380.5(GFM2):c.390T>G (p.Phe130Leu) rs863224036
NM_032380.5(GFM2):c.450G>A (p.Leu150=) rs867915593
NM_032380.5(GFM2):c.669+7del rs768851169

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