ClinVar Miner

Variants with conflicting interpretations "likely benign" and "association"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (association) minimum review status: Submission 2 (association) method:
ClinVar version:

Total variants with conflicting interpretations: 18

HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24593
NM_001902.6(CTH):c.1208G>T (p.Ser403Ile) rs1021737 0.23572
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_000684.3(ADRB1):c.145A>G (p.Ser49Gly) rs1801252 0.17028
NM_000207.3(INS):c.*9C>T rs3842752 0.16663
NM_004827.3(ABCG2):c.34G>A (p.Val12Met) rs2231137 0.07216
NM_022437.3(ABCG8):c.55G>C (p.Asp19His) rs11887534 0.06566
NM_002386.4(MC1R):c.478C>T (p.Arg160Trp) rs1805008 0.04851
NM_002386.4(MC1R):c.451C>T (p.Arg151Cys) rs1805007 0.04832
NM_021625.5(TRPV4):c.55C>T (p.Pro19Ser) rs3742030 0.03470
NM_002386.4(MC1R):c.880G>C (p.Asp294His) rs1805009 0.01121
UGT1A1*6 rs4148323 0.00891
NM_000066.4(C8B):c.1144G>T (p.Asp382Tyr) rs139498867 0.00442
NM_174936.4(PCSK9):c.426C>G (p.Tyr142Ter) rs67608943 0.00048
NM_006949.4(STXBP2):c.1586G>C (p.Arg529Pro) rs35490401
NM_007272.3(CTRC):c.180C>A (p.Gly60=) rs497078
NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)
NM_174936.4(PCSK9):c.287GCC[1] (p.Arg97del) rs587776545

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