ClinVar Miner

List of variants in gene combination GH-LCR, SCN4A reported as likely pathogenic

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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_000334.4(SCN4A):c.2794G>A (p.Asp932Asn) rs199656266 0.00006
NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln) rs527236149 0.00003
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr) rs80338958 0.00003
NM_000334.4(SCN4A):c.4378C>T (p.Arg1460Trp) rs368256039 0.00003
NM_000334.4(SCN4A):c.4387C>A (p.Arg1463Ser) rs774453167 0.00003
NM_000334.4(SCN4A):c.3394C>T (p.Arg1132Trp) rs778176181 0.00002
NM_000334.4(SCN4A):c.3688G>A (p.Val1230Met) rs778820577 0.00002
NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr) rs377176361 0.00002
NM_000334.4(SCN4A):c.2023C>T (p.Arg675Trp) rs121908556 0.00001
NM_000334.4(SCN4A):c.3917G>C (p.Gly1306Ala) rs80338792 0.00001
NM_000334.4(SCN4A):c.4360C>T (p.Arg1454Trp) rs879253789 0.00001
NM_000334.4(SCN4A):c.4484T>C (p.Ile1495Thr) rs1318966106 0.00001
NM_000334.4(SCN4A):c.2023C>G (p.Arg675Gly) rs121908556
NM_000334.4(SCN4A):c.2065C>T (p.Leu689Phe) rs80338955
NM_000334.4(SCN4A):c.2078T>G (p.Ile693Ser)
NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr) rs1057518865
NM_000334.4(SCN4A):c.2108T>C (p.Leu703Pro) rs2144793242
NM_000334.4(SCN4A):c.2114T>C (p.Leu705Pro)
NM_000334.4(SCN4A):c.2150T>C (p.Val717Ala) rs1567823095
NM_000334.4(SCN4A):c.2386C>G (p.Leu796Val) rs750053946
NM_000334.4(SCN4A):c.2411C>T (p.Ser804Phe) rs121908546
NM_000334.4(SCN4A):c.2874T>A (p.Tyr958Ter) rs1567819954
NM_000334.4(SCN4A):c.2919del (p.Glu974fs) rs1567819905
NM_000334.4(SCN4A):c.3403C>A (p.Arg1135Ser) rs1287863349
NM_000334.4(SCN4A):c.3403C>T (p.Arg1135Cys)
NM_000334.4(SCN4A):c.3445G>T (p.Val1149Leu) rs1908692348
NM_000334.4(SCN4A):c.3455C>A (p.Ala1152Asp)
NM_000334.4(SCN4A):c.3470T>A (p.Ile1157Asn) rs1908691206
NM_000334.4(SCN4A):c.3473C>T (p.Pro1158Leu) rs1555601448
NM_000334.4(SCN4A):c.3475T>C (p.Ser1159Pro)
NM_000334.4(SCN4A):c.3497T>C (p.Val1166Ala) rs2144779553
NM_000334.4(SCN4A):c.3539A>T (p.Asn1180Ile) rs1908688683
NM_000334.4(SCN4A):c.3607del (p.Val1203fs)
NM_000334.4(SCN4A):c.3615C>G (p.Asn1205Lys) rs1181083611
NM_000334.4(SCN4A):c.3733G>A (p.Gly1245Ser)
NM_000334.4(SCN4A):c.3774+1G>T rs2144778785
NM_000334.4(SCN4A):c.3798G>C (p.Glu1266Asp)
NM_000334.4(SCN4A):c.3877G>C (p.Val1293Leu)
NM_000334.4(SCN4A):c.3898CAG[1] (p.Gln1301del) rs752135284
NM_000334.4(SCN4A):c.3929T>A (p.Ile1310Asn) rs1567817380
NM_000334.4(SCN4A):c.4098C>A (p.Asn1366Lys) rs1908594231
NM_000334.4(SCN4A):c.4108A>G (p.Met1370Val) rs80338960
NM_000334.4(SCN4A):c.4109T>C (p.Met1370Thr) rs1908593639
NM_000334.4(SCN4A):c.4179_4180insCC (p.Ile1394fs) rs1064794596
NM_000334.4(SCN4A):c.4340T>C (p.Phe1447Ser)
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His) rs121908545
NM_000334.4(SCN4A):c.4343G>T (p.Arg1448Leu) rs121908545
NM_000334.4(SCN4A):c.4352G>A (p.Arg1451His) rs748517635
NM_000334.4(SCN4A):c.4366G>T (p.Gly1456Trp) rs2144774834
NM_000334.4(SCN4A):c.4372G>T (p.Val1458Phe) rs1199222144
NM_000334.4(SCN4A):c.4388G>T (p.Arg1463Leu) rs771340029
NM_000334.4(SCN4A):c.4418T>C (p.Phe1473Ser)
NM_000334.4(SCN4A):c.4426A>G (p.Met1476Val) rs1567816461
NM_000334.4(SCN4A):c.4427T>C (p.Met1476Thr) rs1064795409
NM_000334.4(SCN4A):c.4428G>A (p.Met1476Ile) rs121908559
NM_000334.4(SCN4A):c.4442C>A (p.Ala1481Asp) rs763893717
NM_000334.4(SCN4A):c.4776G>A (p.Met1592Ile) rs886041805
NM_000334.4(SCN4A):c.4897C>G (p.Gln1633Glu) rs2144773878
NM_000334.4(SCN4A):c.5113T>A (p.Phe1705Ile) rs1064794243
NM_000334.4(SCN4A):c.5120_5128delinsTGT (p.Ala1707_Pro1710delinsValSer) rs2144773503

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