ClinVar Miner

Variants with conflicting interpretations "association" from OMIM and "likely benign" from any submitter

Minimum review status of the submission from OMIM: Collection method of the submission from OMIM:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 12
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HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24593
NM_001902.6(CTH):c.1208G>T (p.Ser403Ile) rs1021737 0.23572
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_000684.3(ADRB1):c.145A>G (p.Ser49Gly) rs1801252 0.17028
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_021625.5(TRPV4):c.55C>T (p.Pro19Ser) rs3742030 0.03470
NM_002386.4(MC1R):c.880G>C (p.Asp294His) rs1805009 0.01121
UGT1A1*6 rs4148323 0.00891
NM_174936.4(PCSK9):c.426C>G (p.Tyr142Ter) rs67608943 0.00048
NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)

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