ClinVar Miner

Variants with conflicting interpretations "drug response" from PharmGKB and "uncertain significance" from any submitter

Minimum review status of the submission from PharmGKB: Collection method of the submission from PharmGKB:
Minimum review status of the other submission: Collection method of the other submission:
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Total variants with conflicting interpretations: 23
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HGVS dbSNP gnomAD frequency
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
NM_000745.4(CHRNA5):c.1192G>A (p.Asp398Asn) rs16969968 0.24062
NM_000594.3(TNF):c.-488G>A rs1800629 0.14163
NM_000041.2(APOE):c.526C>T (p.Arg176Cys) rs7412 0.07986
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
NM_000110.4(DPYD):c.2303C>A (p.Thr768Lys) rs56005131 0.00011
NM_000110.4(DPYD):c.1774C>T (p.Arg592Trp) rs59086055 0.00006
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542 0.00006
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) rs202179988 0.00003
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu) rs186045772 0.00001
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr) rs193922809 0.00001
NM_000492.4(CFTR):c.3199G>A (p.Ala1067Thr) rs121909020
NM_000540.3(RYR1):c.1209C>G (p.Ile403Met) rs118192116
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys) rs193922748
NM_000540.3(RYR1):c.14387A>G (p.Tyr4796Cys) rs118192167
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His) rs63749869
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.3(RYR1):c.982C>T (p.Arg328Trp) rs193922762
NM_000789.4(ACE):c.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT rs1799752
m.1095T>C rs267606618

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