ClinVar Miner

List of variants reported as uncertain significance for familial melanoma by Mendelics

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_058195.4(CDKN2A):c.160C>A (p.Arg54Ser) rs896054565 0.00006
NC_000012.12:g.57752350C>T rs1280668662 0.00005
NM_000075.4(CDK4):c.661G>A (p.Asp221Asn) rs587778187 0.00002
NM_000075.4(CDK4):c.763C>T (p.Arg255Cys) rs587778188 0.00002
NM_000075.4(CDK4):c.520G>A (p.Val174Met) rs780052789 0.00001
NM_000075.4(CDK4):c.632+9C>T rs1192976748 0.00001
NM_000075.4(CDK4):c.689T>C (p.Ile230Thr) rs760435132 0.00001
NM_058195.4(CDKN2A):c.35G>A (p.Arg12Gln) rs201877069 0.00001
NM_000075.4(CDK4):c.132_143del (p.Gly45_Gly48del) rs749094206
NM_000075.4(CDK4):c.133G>C (p.Gly45Arg) rs876660318
NM_000075.4(CDK4):c.155G>T (p.Ser52Ile) rs760719270
NM_000075.4(CDK4):c.19G>A (p.Glu7Lys) rs1000052939
NM_000077.5(CDKN2A):c.148C>A (p.Gln50Lys) rs864622636
NM_000077.5(CDKN2A):c.170C>A (p.Ala57Asp) rs372266620
NM_000077.5(CDKN2A):c.294C>T (p.His98=) rs752685118

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