ClinVar Miner

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

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

Total variants with conflicting interpretations: 31

HGVS dbSNP
ALOX5, VARIANT PROMOTER SP1 BINDING
ESR1, IVS1, T-C, -401
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu) rs5219
NM_000540.2(RYR1):c.1021G>A (p.Gly341Arg) rs121918592
NM_000540.2(RYR1):c.14387A>G (p.Tyr4796Cys) rs118192167
NM_000540.2(RYR1):c.14477C>T (p.Thr4826Ile) rs121918595
NM_000540.2(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.2(RYR1):c.1565A>C (p.Tyr522Ser) rs118192162
NM_000540.2(RYR1):c.1840C>T (p.Arg614Cys) rs118192172
NM_000540.2(RYR1):c.487C>T (p.Arg163Cys) rs118192161
NM_000540.2(RYR1):c.6487C>T (p.Arg2163Cys) rs118192175
NM_000540.2(RYR1):c.6488G>A (p.Arg2163His) rs118192163
NM_000540.2(RYR1):c.6502G>A (p.Val2168Met) rs118192176
NM_000540.2(RYR1):c.7042_7044delGAG (p.Glu2348del) rs121918596
NM_000540.2(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593
NM_000540.2(RYR1):c.7372C>T (p.Arg2458Cys) rs28933397
NM_000540.2(RYR1):c.7373G>A (p.Arg2458His) rs121918594
NM_000540.2(RYR1):c.742G>A (p.Gly248Arg) rs1801086
NM_000690.3(ALDH2):c.1510G>A (p.Glu504Lys) rs671
NM_000745.3(CHRNA5):c.1192G>A (p.Asp398Asn) rs16969968
NM_000903.2(NQO1):c.559C>T (p.Pro187Ser) rs1800566
NM_000927.4(ABCB1):c.2677T>G (p.Ser893Ala) rs2032582
NM_001024465.2(SOD2):c.47T>C (p.Val16Ala) rs4880
NM_001145775.2(FKBP5):c.106-2636A= rs1360780
NM_001166694.1(CHRNA3):c.645C>T (p.Tyr215=) rs1051730
NM_002454.2(MTRR):c.66A>G (p.Ile22Met) rs1801394
NM_006920.4(SCN1A):c.603-91G>A rs3812718
NM_021642.3(FCGR2A):c.497A>G (p.His166Arg) rs1801274
NM_030756.4(TCF7L2):c.382-41435C>T rs7903146
NM_176801.2(ADD1):c.1378G>T (p.Gly460Trp) rs4961

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