ClinVar Miner

Variants with conflicting interpretations "risk factor" and "drug response"

Submission 1 (risk factor) minimum review status: Submission 1 (risk factor) method:
Submission 2 (drug response) minimum review status: Submission 2 (drug response) method:
ClinVar version:

Total variants with conflicting interpretations: 24

HGVS dbSNP gnomAD frequency
NM_000777.5(CYP3A5):c.219-237A>G rs776746 0.72319
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) rs5219 0.72048
NM_002454.3(MTRR):c.66A>G (p.Ile22Met) rs1801394 0.44947
NM_004117.4(FKBP5):c.106-2636= rs1360780 0.32933
NM_000745.4(CHRNA5):c.1192G>A (p.Asp398Asn) rs16969968 0.24062
NM_001354761.2(ADD1):c.1378G>T (p.Gly460Trp) rs4961 0.16268
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_000690.4(ALDH2):c.1510G>A (p.Glu504Lys) rs671 0.00596
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) rs118192172 0.00011
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00006
NM_000540.3(RYR1):c.6487C>T (p.Arg2163Cys) rs118192175 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_000069.3(CACNA1S):c.3257G>A (p.Arg1086His) rs1800559
NM_000540.3(RYR1):c.14387A>G (p.Tyr4796Cys) rs118192167
NM_000540.3(RYR1):c.14477C>T (p.Thr4826Ile) rs121918595
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.3(RYR1):c.1565A>C (p.Tyr522Ser) rs118192162
NM_000540.3(RYR1):c.487C>T (p.Arg163Cys) rs118192161
NM_000540.3(RYR1):c.6488G>A (p.Arg2163His) rs118192163
NM_000540.3(RYR1):c.6502G>A (p.Val2168Met) rs118192176
NM_000540.3(RYR1):c.7039GAG[1] (p.Glu2348del) rs121918596

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