ClinVar Miner

List of variants studied for Pigmented nodular adrenocortical disease, primary, 2

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_016953.4(PDE11A):c.551G>A (p.Arg184Gln) rs6433711 0.99296
NM_016953.4(PDE11A):c.792A>C (p.Thr264=) rs1435573 0.84576
NM_016953.4(PDE11A):c.2563-26G>A rs13025391 0.80688
NM_016953.4(PDE11A):c.2488-29T>C rs6433687 0.80409
NM_016953.4(PDE11A):c.2424-47T>C rs3770016 0.71466
NM_016953.4(PDE11A):c.1737+22G>A rs6433698 0.41308
NM_016953.4(PDE11A):c.1577-3T>C rs3821010 0.41275
NM_016953.4(PDE11A):c.1626A>G (p.Ala542=) rs6720891 0.41245
NM_016953.4(PDE11A):c.1576+26C>T rs13386827 0.29815
NM_016953.4(PDE11A):c.919C>T (p.Arg307Ter) rs76308115 0.00292
NM_016953.4(PDE11A):c.1655T>C (p.Ile552Thr) rs138427178 0.00086
NM_016953.4(PDE11A):c.171del (p.Thr58fs) rs529789124 0.00056
NM_016953.4(PDE11A):c.1973A>G (p.Tyr658Cys) rs77597060 0.00056
NM_016953.4(PDE11A):c.985C>T (p.Arg329Ter) rs188985665 0.00042
NM_016953.4(PDE11A):c.2647G>A (p.Ala883Thr) rs79400048 0.00021
NM_016953.4(PDE11A):c.1811C>G (p.Ser604Ter) rs771254375 0.00011
NM_016953.4(PDE11A):c.2618T>C (p.Ile873Thr) rs371810618 0.00004
NM_016953.4(PDE11A):c.1774G>A (p.Val592Ile) rs1307070302 0.00001
NM_016953.4(PDE11A):c.2290C>T (p.Leu764Phe) rs1323431801 0.00001
NM_016953.4(PDE11A):c.2336T>C (p.Leu779Pro) rs756779426 0.00001
NM_024422.6(DSC2):c.1123C>T (p.Arg375Ter) rs794728075 0.00001
NM_001077197.2(PDE11A):c.20_21del (p.Arg7fs) rs202117698
NM_016953.4(PDE11A):c.1149T>A (p.Tyr383Ter)
NM_016953.4(PDE11A):c.126_127del (p.His42fs)
NM_016953.4(PDE11A):c.1270_1280del (p.Ser424fs) rs2105727398
NM_016953.4(PDE11A):c.1585C>T (p.Gln529Ter) rs2105581875
NM_016953.4(PDE11A):c.1660del (p.Cys554fs) rs573163079
NM_016953.4(PDE11A):c.1913_1915delinsG (p.Gln638fs) rs1574084195
NM_016953.4(PDE11A):c.2044A>G (p.Thr682Ala)
NM_016953.4(PDE11A):c.2268_2272del (p.Ser757fs) rs769235876
NM_016953.4(PDE11A):c.2422C>T (p.Arg808Ter)
NM_016953.4(PDE11A):c.2436G>A (p.Met812Ile)
NM_016953.4(PDE11A):c.2678C>A (p.Pro893Gln) rs200504859
NM_016953.4(PDE11A):c.2758TCC[3] (p.Ser921dup) rs3830637
NM_016953.4(PDE11A):c.493C>A (p.Pro165Thr) rs779068288
Single allele

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