ClinVar Miner

List of variants in gene WDPCP reported as benign for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_015910.7(WDPCP):c.1915+13G>A rs992214 0.63738
NM_015910.7(WDPCP):c.1624+24T>A rs2138796 0.56759
NM_015910.7(WDPCP):c.1916-6C>T rs2421862 0.14640
NM_015910.7(WDPCP):c.802G>A (p.Gly268Ser) rs17617459 0.04486
NM_015910.7(WDPCP):c.*195G>A rs55807617 0.02897
NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser) rs61734468 0.00905
NM_015910.7(WDPCP):c.1333G>C (p.Ala445Pro) rs61734466 0.00572
NM_015910.7(WDPCP):c.68C>A (p.Pro23Gln) rs141340867 0.00398
NM_015910.7(WDPCP):c.499+20A>G rs186575824 0.00159
NM_015910.7(WDPCP):c.1315G>A (p.Val439Ile) rs199676595 0.00052
NM_015910.7(WDPCP):c.83A>T (p.Asp28Val) rs144703991 0.00039
NM_015910.7(WDPCP):c.480C>T (p.Ile160=) rs768777510 0.00024
NM_015910.7(WDPCP):c.*323A>G rs369149310 0.00004
NM_015910.7(WDPCP):c.76-15T>A rs200557033 0.00003
NM_015910.7(WDPCP):c.1448G>A (p.Arg483Gln) rs544657165 0.00001
NM_015910.7(WDPCP):c.*624_*625del rs139878372
NM_015910.7(WDPCP):c.1749-12del
NM_015910.7(WDPCP):c.385-3del rs559429215
NM_015910.7(WDPCP):c.76-15_76-5del rs780314107
NM_015910.7(WDPCP):c.924A>G (p.Val308=) rs201844706

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