ClinVar Miner

Variants with conflicting interpretations "affects" and "benign"

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

Total variants with conflicting interpretations: 13

NM_000121.4(EPOR):c.1460A>G (p.Asn487Ser) rs62638745
NM_000275.3(OCA2):c.1256G>A (p.Arg419Gln) rs1800407
NM_000275.3(OCA2):c.913C>T (p.Arg305Trp) rs1800401
NM_001072.4(UGT1A6):c.862-6061C>A rs35350960
NM_001104.4(ACTN3):c.1729C>T (p.Arg577Ter) rs1815739
NM_001211.5(BUB1B):c.1649G>A (p.Arg550Gln) rs28989187
NM_002087.3(GRN):c.*78C>T rs5848
NM_002335.4(LRP5):c.2220C>T (p.Asn740=) rs2306862
NM_002386.3(MC1R):c.451C>T (p.Arg151Cys) rs1805007
NM_003465.3(CHIT1):c.304G>A (p.Gly102Ser) rs2297950
NM_020469.2(ABO):c.261delG (p.Thr88Profs) rs1556058284
UGT1A1*28 rs3064744
UGT1A1*6 rs4148323

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