ClinVar Miner

Variants with conflicting interpretations "benign" and "affects"

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

Total variants with conflicting interpretations: 10

HGVS dbSNP
NM_000275.2(OCA2):c.1256G>A (p.Arg419Gln) rs1800407
NM_000275.2(OCA2):c.913C>T (p.Arg305Trp) rs1800401
NM_000463.2(UGT1A1):c.686C>A (p.Pro229Gln) rs35350960
NM_001104.3(ACTN3):c.1729C>T (p.Arg577Ter) rs1815739
NM_001211.5(BUB1B):c.1649G>A (p.Arg550Gln) rs28989187
NM_002335.3(LRP5):c.2220C>T (p.Asn740=) rs2306862
NM_002386.3(MC1R):c.451C>T (p.Arg151Cys) rs1805007
NM_003465.2(CHIT1):c.304G>A (p.Gly102Ser) rs2297950
UGT1A1*28 rs3064744
UGT1A1*6 rs4148323

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