ClinVar Miner

List of variants in gene SEMG1 reported by Ambry Genetics

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Gene type:
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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_003007.5(SEMG1):c.1067G>A (p.Arg356Lys) rs139732745 0.00029
NM_003007.5(SEMG1):c.1040C>T (p.Ser347Leu) rs142315536 0.00021
NM_003007.5(SEMG1):c.696T>A (p.Ser232Arg) rs150179367 0.00021
NM_003007.5(SEMG1):c.565G>A (p.Gly189Arg) rs113377758 0.00017
NM_003007.5(SEMG1):c.1058C>T (p.Thr353Met) rs145941667 0.00014
NM_003007.5(SEMG1):c.218C>T (p.Ala73Val) rs139077132 0.00014
NM_003007.5(SEMG1):c.190T>C (p.Ser64Pro) rs369245912 0.00011
NM_003007.5(SEMG1):c.1027G>A (p.Ala343Thr) rs186005484 0.00003
NM_003007.5(SEMG1):c.194T>C (p.Ile65Thr) rs375412058 0.00003
NM_003007.5(SEMG1):c.1028C>T (p.Ala343Val) rs763681729 0.00002
NM_003007.5(SEMG1):c.634A>G (p.Asn212Asp) rs751792588 0.00002
NM_003007.5(SEMG1):c.832C>G (p.Gln278Glu) rs753925778 0.00002
NM_003007.5(SEMG1):c.1307T>C (p.Ile436Thr) rs745966110 0.00001
NM_003007.5(SEMG1):c.265G>A (p.Ala89Thr) rs986772241 0.00001
NM_003007.5(SEMG1):c.347A>G (p.His116Arg) rs772467076 0.00001
NM_003007.5(SEMG1):c.400A>C (p.Lys134Gln) rs749075922 0.00001
NM_003007.5(SEMG1):c.65T>C (p.Met22Thr) rs1444085665 0.00001
NM_003007.5(SEMG1):c.101G>A (p.Ser34Asn)
NM_003007.5(SEMG1):c.112C>G (p.Gln38Glu)
NM_003007.5(SEMG1):c.1190C>T (p.Pro397Leu)
NM_003007.5(SEMG1):c.1198G>A (p.Gly400Ser) rs751003980
NM_003007.5(SEMG1):c.1243C>G (p.Gln415Glu) rs776076348
NM_003007.5(SEMG1):c.1342C>T (p.His448Tyr) rs773831989
NM_003007.5(SEMG1):c.1348G>A (p.Ala450Thr) rs759104817
NM_003007.5(SEMG1):c.1368C>G (p.Asp456Glu) rs778909642
NM_003007.5(SEMG1):c.166C>A (p.Gln56Lys)
NM_003007.5(SEMG1):c.188T>C (p.Phe63Ser) rs2515488801
NM_003007.5(SEMG1):c.22G>A (p.Val8Ile)
NM_003007.5(SEMG1):c.244A>C (p.Ser82Arg) rs1385113241
NM_003007.5(SEMG1):c.283A>G (p.Lys95Glu)
NM_003007.5(SEMG1):c.335A>G (p.Glu112Gly) rs937656991
NM_003007.5(SEMG1):c.338G>A (p.Gly113Asp) rs1983727800
NM_003007.5(SEMG1):c.395G>A (p.Gly132Glu) rs752629107
NM_003007.5(SEMG1):c.419A>G (p.Gln140Arg)
NM_003007.5(SEMG1):c.430C>G (p.Gln144Glu)
NM_003007.5(SEMG1):c.443A>C (p.Asn148Thr) rs775577796
NM_003007.5(SEMG1):c.490G>A (p.Glu164Lys)
NM_003007.5(SEMG1):c.514A>C (p.Ser172Arg) rs2515489412
NM_003007.5(SEMG1):c.532G>A (p.Val178Ile)
NM_003007.5(SEMG1):c.622C>T (p.Arg208Cys)
NM_003007.5(SEMG1):c.637T>A (p.Ser213Thr)
NM_003007.5(SEMG1):c.638C>T (p.Ser213Phe) rs1037444037
NM_003007.5(SEMG1):c.647A>G (p.Asn216Ser) rs756699012
NM_003007.5(SEMG1):c.689A>T (p.His230Leu) rs373203554
NM_003007.5(SEMG1):c.718C>T (p.Pro240Ser)
NM_003007.5(SEMG1):c.755A>G (p.Asp252Gly) rs746230945
NM_003007.5(SEMG1):c.757A>G (p.Ile253Val)
NM_003007.5(SEMG1):c.758T>C (p.Ile253Thr)
NM_003007.5(SEMG1):c.77G>A (p.Gly26Asp)
NM_003007.5(SEMG1):c.804C>G (p.His268Gln) rs1363572017
NM_003007.5(SEMG1):c.808A>C (p.Thr270Pro)
NM_003007.5(SEMG1):c.858A>G (p.Ile286Met) rs780856879
NM_003007.5(SEMG1):c.890G>A (p.Arg297Gln)
NM_003007.5(SEMG1):c.920A>G (p.Lys307Arg)
NM_003007.5(SEMG1):c.988A>G (p.Ile330Val)
NM_003007.5(SEMG1):c.98C>T (p.Pro33Leu) rs764393817
NM_003007.5(SEMG1):c.991A>G (p.Thr331Ala)

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