ClinVar Miner

Variants with conflicting interpretations "protective" and "benign"

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

Total variants with conflicting interpretations: 15

HGVS dbSNP
MC4R, VAL103ILE (rs2229616)
NM_000113.2(TOR1A):c.646G>C (p.Asp216His) rs1801968
NM_000129.3(F13A1):c.103G>T (p.Val35Leu) rs5985
NM_000133.3(F9):c.580A>G (p.Thr194Ala) rs6048
NM_000253.3(MTTP):c.383T>C (p.Ile128Thr) rs3816873
NM_000579.3(CCR5):c.-301+246A>G rs1799987
NM_000744.6(CHRNA4):c.1629C>T (p.Ser543=) rs1044396
NM_000744.6(CHRNA4):c.1659G>A (p.Ala553=) rs1044397
NM_001228.4(CASP8):c.904G>C (p.Asp302His) rs1045485
NM_001710.5(CFB):c.95G>A (p.Arg32Gln) rs641153
NM_002312.3(LIG4):c.26C>T (p.Thr9Ile) rs1805388
NM_002312.3(LIG4):c.8C>T (p.Ala3Val) rs1805389
NM_003265.2(TLR3):c.1234C>T (p.Leu412Phe) rs3775291
NM_005912.2(MC4R):c.751A>C (p.Ile251Leu) rs52820871
NM_020975.5(RET):c.*1969T>C rs3026785

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