ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Cavalleri Lab, Royal College of Surgeons in Ireland and "pathogenic" from any submitter

Minimum review status of the submission from Cavalleri Lab, Royal College of Surgeons in Ireland: Collection method of the submission from Cavalleri Lab, Royal College of Surgeons in Ireland:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 13
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_000238.4(KCNH2):c.2266A>G (p.Met756Val) rs199473534 0.00001
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp) rs1553925453 0.00001
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met) rs137852946 0.00001
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000297.4(PKD2):c.974G>A (p.Arg325Gln) rs1727420867
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100
NM_001009944.3(PKD1):c.8299C>T (p.Arg2767Cys) rs2092203712
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His) rs886041246
NM_001127644.2(GABRA1):c.641G>A (p.Arg214His) rs886039373
NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys) rs121917993
NM_001271.4(CHD2):c.3454C>T (p.Arg1152Trp) rs1596443241
NM_006306.4(SMC1A):c.2948A>G (p.Tyr983Cys) rs1556887759

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