ClinVar Miner

Variants with conflicting interpretations "drug response" and "likely pathogenic"

Submission 1 (drug response) minimum review status: Submission 1 (drug response) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
ClinVar version:

Total variants with conflicting interpretations: 41

HGVS dbSNP gnomAD frequency
NM_001025195.2(CES1):c.431G>A (p.Gly144Glu) rs71647871 0.00998
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser) rs55886062 0.00040
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969 0.00033
NM_005228.5(EGFR):c.2369C>T (p.Thr790Met) rs121434569 0.00006
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753 0.00004
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) rs202179988 0.00003
NM_000169.3(GLA):c.593T>C (p.Ile198Thr) rs727503950 0.00002
NM_000540.3(RYR1):c.1201C>T (p.Arg401Cys) rs193922764 0.00002
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp) rs772226819 0.00001
NM_000492.4(CFTR):c.2930C>T (p.Ser977Phe) rs141033578 0.00001
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu) rs186045772 0.00001
NM_000540.3(RYR1):c.1597C>T (p.Arg533Cys) rs193922768 0.00001
NM_000540.3(RYR1):c.7007G>A (p.Arg2336His) rs112563513 0.00001
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr) rs193922809 0.00001
NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys) rs193922816 0.00001
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys) rs28933397 0.00001
NM_000540.3(RYR1):c.7373G>A (p.Arg2458His) rs121918594 0.00001
NM_000546.6(TP53):c.853G>A (p.Glu285Lys) rs112431538 0.00001
NC_012920.1(MT-ND1):m.1494C>T rs267606619
NM_000169.3(GLA):c.540G>T (p.Leu180Phe) rs869312145
NM_000169.3(GLA):c.610T>C (p.Trp204Arg) rs869312148
NM_000169.3(GLA):c.758T>C (p.Ile253Thr) rs727505292
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.3199G>A (p.Ala1067Thr) rs121909020
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys) rs77834169
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys) rs193922748
NM_000540.3(RYR1):c.14497C>T (p.His4833Tyr) rs193922876
NM_000540.3(RYR1):c.14512C>G (p.Leu4838Val) rs193922878
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.3(RYR1):c.1654C>T (p.Arg552Trp) rs193922770
NM_000540.3(RYR1):c.6488G>A (p.Arg2163His) rs118192163
NM_000540.3(RYR1):c.7039GAG[1] (p.Glu2348del) rs121918596
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp) rs118192124
NM_000540.3(RYR1):c.7523G>A (p.Arg2508His) rs193922818
NM_000540.3(RYR1):c.9310G>A (p.Glu3104Lys) rs193922832
NM_000540.3(RYR1):c.982C>T (p.Arg328Trp) rs193922762
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_006218.4(PIK3CA):c.1633G>C (p.Glu545Gln) rs104886003

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