ClinVar Miner

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

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

Total variants with conflicting interpretations: 11

HGVS dbSNP gnomAD frequency
NM_003465.3(CHIT1):c.1049_1072dup (p.Trp358Ter) rs3831317 0.16576
NM_004827.3(ABCG2):c.34G>A (p.Val12Met) rs2231137 0.07216
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_001142864.4(PIEZO1):c.6734G>A (p.Arg2245Gln) rs2290901 0.01007
UGT1A1*6 rs4148323 0.00891
NM_005689.4(ABCB6):c.574C>T (p.Arg192Trp) rs149202834 0.00166
NM_001142864.4(PIEZO1):c.7180G>A (p.Gly2394Ser) rs201950081 0.00109
NM_000342.4(SLC4A1):c.1972G>A (p.Glu658Lys) rs75731670 0.00024
NM_001735.3(C5):c.2654G>A (p.Arg885His) rs56040400 0.00011
NM_025137.4(SPG11):c.833A>G (p.Asn278Ser) rs75309308

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