ClinVar Miner

List of variants in gene combination GH-LCR, SCN4A reported as uncertain significance by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 36
Download table as spreadsheet
HGVS dbSNP
NM_000334.4(SCN4A):c.2083A>G (p.Asn695Asp) rs1327920743
NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr) rs1057518865
NM_000334.4(SCN4A):c.2150T>C (p.Val717Ala) rs1567823095
NM_000334.4(SCN4A):c.2411C>G (p.Ser804Cys) rs121908546
NM_000334.4(SCN4A):c.2812G>A (p.Glu938Lys) rs374673348
NM_000334.4(SCN4A):c.2956G>A (p.Glu986Lys) rs369128679
NM_000334.4(SCN4A):c.3032A>G (p.Gln1011Arg) rs1555601881
NM_000334.4(SCN4A):c.3181A>G (p.Ile1061Val) rs773489142
NM_000334.4(SCN4A):c.3286G>C (p.Ala1096Pro)
NM_000334.4(SCN4A):c.3430G>A (p.Glu1144Lys)
NM_000334.4(SCN4A):c.3466G>T (p.Ala1156Ser) rs80338958
NM_000334.4(SCN4A):c.3871A>G (p.Ile1291Val)
NM_000334.4(SCN4A):c.3893T>G (p.Phe1298Cys) rs886043595
NM_000334.4(SCN4A):c.3932T>G (p.Phe1311Cys) rs1555601196
NM_000334.4(SCN4A):c.4031G>C (p.Gly1344Ala)
NM_000334.4(SCN4A):c.4036G>A (p.Val1346Met) rs1555601054
NM_000334.4(SCN4A):c.4052C>T (p.Thr1351Met) rs545724550
NM_000334.4(SCN4A):c.4080G>T (p.Met1360Ile)
NM_000334.4(SCN4A):c.4088T>A (p.Ile1363Asn) rs1567817027
NM_000334.4(SCN4A):c.4343G>T (p.Arg1448Leu)
NM_000334.4(SCN4A):c.4352G>A (p.Arg1451His) rs748517635
NM_000334.4(SCN4A):c.4364T>G (p.Ile1455Ser) rs377176361
NM_000334.4(SCN4A):c.4372G>T (p.Val1458Phe) rs1199222144
NM_000334.4(SCN4A):c.4386C>G (p.Ile1462Met)
NM_000334.4(SCN4A):c.4390G>A (p.Gly1464Arg) rs150423825
NM_000334.4(SCN4A):c.4420G>A (p.Ala1474Thr)
NM_000334.4(SCN4A):c.4426A>G (p.Met1476Val) rs1567816461
NM_000334.4(SCN4A):c.4465C>T (p.Leu1489Phe) rs1555600762
NM_000334.4(SCN4A):c.4759C>T (p.Leu1587Phe) rs1567816227
NM_000334.4(SCN4A):c.4804A>C (p.Asn1602His) rs1189124411
NM_000334.4(SCN4A):c.4825A>C (p.Ser1609Arg) rs1555600678
NM_000334.4(SCN4A):c.4949C>T (p.Pro1650Leu)
NM_000334.4(SCN4A):c.5104G>A (p.Glu1702Lys) rs1555600605
NM_000334.4(SCN4A):c.5104_5106GAG[1] (p.Glu1703del) rs1464481652
NM_000334.4(SCN4A):c.5105A>G (p.Glu1702Gly) rs1555600604
NM_000334.4(SCN4A):c.5126A>G (p.Asn1709Ser) rs766365683

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.