ClinVar Miner

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

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

Total variants with conflicting interpretations: 13

HGVS dbSNP
NM_000372.4(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000372.4(TYR):c.575C>A (p.Ser192Tyr) rs1042602
NM_000684.2(ADRB1):c.145A>G (p.Ser49Gly) rs1801252
NM_001902.5(CTH):c.1208G>T (p.Ser403Ile) rs1021737
NM_002386.3(MC1R):c.451C>T (p.Arg151Cys) rs1805007
NM_002386.3(MC1R):c.478C>T (p.Arg160Trp) rs1805008
NM_002386.3(MC1R):c.880G>C (p.Asp294His) rs1805009
NM_015100.3(POGZ):c.130G>A (p.Val44Met) rs752798900
NM_015100.3(POGZ):c.4089T>G (p.His1363Gln) rs142860188
NM_016180.4(SLC45A2):c.814G>A (p.Glu272Lys) rs26722
NM_032682.5(FOXP1):c.1702C>T (p.Pro568Ser) rs147674680
NM_174936.3(PCSK9):c.137G>T (p.Arg46Leu) rs11591147
UGT1A1*6 rs4148323

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