ClinVar Miner

List of variants in gene GCM2 studied for endocrine gland neoplasm

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 81
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004752.4(GCM2):c.1060A>G (p.Met354Val) rs61734278 0.01292
NM_004752.4(GCM2):c.943A>G (p.Asn315Asp) rs114070356 0.00258
NM_004752.4(GCM2):c.306G>A (p.Arg102=) rs149143032 0.00142
NM_004752.4(GCM2):c.1181A>C (p.Tyr394Ser) rs142287570 0.00050
NM_004752.4(GCM2):c.319G>A (p.Asp107Asn) rs61741855 0.00043
NM_004752.4(GCM2):c.1342A>G (p.Met448Val) rs147168542 0.00017
NM_004752.4(GCM2):c.1063G>A (p.Ala355Thr) rs764488668 0.00007
NM_004752.4(GCM2):c.1144G>A (p.Val382Met) rs371918069 0.00006
NM_004752.4(GCM2):c.1109C>T (p.Thr370Met) rs146395801 0.00004
NM_004752.4(GCM2):c.1364G>A (p.Arg455Gln) rs145103332 0.00004
NM_004752.4(GCM2):c.318C>T (p.Cys106=) rs749600723 0.00004
NM_004752.4(GCM2):c.187G>A (p.Gly63Ser) rs104893960 0.00003
NM_004752.4(GCM2):c.116G>A (p.Arg39Gln) rs534895356 0.00001
NM_004752.4(GCM2):c.1504A>C (p.Asn502His) rs533942394 0.00001
NM_004752.3(GCM2):c.[1136T>A;751C>G]
NM_004752.4(GCM2):c.1003C>T (p.Pro335Ser)
NM_004752.4(GCM2):c.100C>G (p.Leu34Val)
NM_004752.4(GCM2):c.1027G>A (p.Val343Met)
NM_004752.4(GCM2):c.1048C>T (p.Gln350Ter)
NM_004752.4(GCM2):c.1052T>A (p.Phe351Tyr)
NM_004752.4(GCM2):c.1076A>G (p.Tyr359Cys)
NM_004752.4(GCM2):c.1100_1103del (p.Arg367fs)
NM_004752.4(GCM2):c.1111A>G (p.Thr371Ala)
NM_004752.4(GCM2):c.1120C>T (p.Pro374Ser)
NM_004752.4(GCM2):c.1123G>T (p.Gly375Cys)
NM_004752.4(GCM2):c.1148T>C (p.Ile383Thr) rs2113243235
NM_004752.4(GCM2):c.1166T>C (p.Val389Ala)
NM_004752.4(GCM2):c.1177_1185dup (p.Ala393_Gln395dup) rs551375300
NM_004752.4(GCM2):c.1187C>A (p.Pro396His)
NM_004752.4(GCM2):c.1216C>T (p.Arg406Ter)
NM_004752.4(GCM2):c.1230C>G (p.Ser410Arg)
NM_004752.4(GCM2):c.1235C>T (p.Ser412Leu)
NM_004752.4(GCM2):c.1245C>A (p.Asn415Lys)
NM_004752.4(GCM2):c.1247A>G (p.Tyr416Cys)
NM_004752.4(GCM2):c.1259A>T (p.Asp420Val)
NM_004752.4(GCM2):c.1277A>G (p.Tyr426Cys)
NM_004752.4(GCM2):c.129C>G (p.Asp43Glu) rs141188465
NM_004752.4(GCM2):c.1336C>A (p.Pro446Thr)
NM_004752.4(GCM2):c.1343T>A (p.Met448Lys)
NM_004752.4(GCM2):c.1344G>C (p.Met448Ile)
NM_004752.4(GCM2):c.1348A>G (p.Ile450Val)
NM_004752.4(GCM2):c.1352C>T (p.Ala451Val)
NM_004752.4(GCM2):c.1393C>G (p.His465Asp)
NM_004752.4(GCM2):c.1396G>A (p.Glu466Lys)
NM_004752.4(GCM2):c.1398G>C (p.Glu466Asp) rs537546612
NM_004752.4(GCM2):c.139C>A (p.Arg47Ser)
NM_004752.4(GCM2):c.139C>T (p.Arg47Cys)
NM_004752.4(GCM2):c.140G>A (p.Arg47His)
NM_004752.4(GCM2):c.1435G>A (p.Asp479Asn)
NM_004752.4(GCM2):c.1462G>A (p.Ala488Thr)
NM_004752.4(GCM2):c.1469G>T (p.Ser490Ile)
NM_004752.4(GCM2):c.1484T>C (p.Val495Ala)
NM_004752.4(GCM2):c.1505A>T (p.Asn502Ile)
NM_004752.4(GCM2):c.175C>T (p.Arg59Cys)
NM_004752.4(GCM2):c.199C>T (p.Arg67Cys)
NM_004752.4(GCM2):c.1A>G (p.Met1Val) rs2113257238
NM_004752.4(GCM2):c.22G>A (p.Glu8Lys)
NM_004752.4(GCM2):c.250G>C (p.Val84Leu)
NM_004752.4(GCM2):c.255G>A (p.Val85=)
NM_004752.4(GCM2):c.265C>G (p.Gln89Glu) rs886060981
NM_004752.4(GCM2):c.307C>T (p.Pro103Ser) rs1561672362
NM_004752.4(GCM2):c.378G>C (p.Glu126Asp)
NM_004752.4(GCM2):c.40T>G (p.Ser14Ala)
NM_004752.4(GCM2):c.443C>T (p.Ala148Val)
NM_004752.4(GCM2):c.484C>T (p.Pro162Ser)
NM_004752.4(GCM2):c.51G>A (p.Met17Ile)
NM_004752.4(GCM2):c.523A>T (p.Ile175Phe)
NM_004752.4(GCM2):c.52C>A (p.Gln18Lys)
NM_004752.4(GCM2):c.536T>A (p.Met179Lys)
NM_004752.4(GCM2):c.538G>C (p.Ala180Pro)
NM_004752.4(GCM2):c.545T>C (p.Phe182Ser)
NM_004752.4(GCM2):c.547T>C (p.Tyr183His)
NM_004752.4(GCM2):c.554C>T (p.Pro185Leu)
NM_004752.4(GCM2):c.578C>T (p.Ser193Phe)
NM_004752.4(GCM2):c.611A>T (p.His204Leu)
NM_004752.4(GCM2):c.652G>A (p.Asp218Asn)
NM_004752.4(GCM2):c.657A>G (p.Ile219Met)
NM_004752.4(GCM2):c.838C>T (p.Pro280Ser)
NM_004752.4(GCM2):c.845_853dup (p.Asn284_Ser285insTyrThrAsn)
NM_004752.4(GCM2):c.913G>A (p.Val305Ile)
NM_004752.4(GCM2):c.995G>A (p.Gly332Asp)

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.