ClinVar Miner

List of variants in gene GANAB studied for cystic kidney disease

Included ClinVar conditions (50):
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Gene type:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_198334.3(GANAB):c.714G>A (p.Pro238=) rs139305180 0.01448
NM_198334.3(GANAB):c.380+15A>G rs146098557 0.00910
NM_198334.3(GANAB):c.38+17C>T rs200471233 0.00275
NM_198334.3(GANAB):c.1386+18C>T rs79188721 0.00066
NM_198334.3(GANAB):c.2343C>T (p.Ser781=) rs779306237 0.00018
NM_198334.3(GANAB):c.2253G>A (p.Ala751=) rs200456484 0.00016
NM_198334.3(GANAB):c.920C>G (p.Pro307Arg) rs201801499 0.00012
NM_198334.3(GANAB):c.262G>A (p.Val88Met) rs145841521 0.00008
NM_198334.3(GANAB):c.548C>T (p.Ala183Val) rs921091711 0.00008
NM_198334.3(GANAB):c.926G>A (p.Arg309His) rs144118755 0.00008
NM_198334.3(GANAB):c.1594-9C>T rs200289173 0.00006
NM_198334.3(GANAB):c.253G>A (p.Val85Met) rs1033126561 0.00006
NM_198334.3(GANAB):c.381-10T>C rs371678104 0.00006
NM_198334.3(GANAB):c.2334C>A (p.Asp778Glu) rs937056702 0.00005
NM_198334.3(GANAB):c.2093G>A (p.Arg698Gln) rs765000469 0.00004
NM_198334.3(GANAB):c.2512-13A>G rs376460143 0.00004
NM_198334.3(GANAB):c.323C>T (p.Pro108Leu) rs200232092 0.00002
NM_198334.3(GANAB):c.560+469C>T rs777394229 0.00002
NM_198334.3(GANAB):c.1433G>A (p.Arg478Gln) rs1355968760 0.00001
NM_198334.3(GANAB):c.2177T>C (p.Met726Thr) rs772357517 0.00001
NM_198334.3(GANAB):c.2830C>T (p.Arg944Ter) rs781470089 0.00001
NM_198334.3(GANAB):c.415G>A (p.Glu139Lys) rs1033886387 0.00001
NM_198334.3(GANAB):c.1142G>C (p.Ser381Thr) rs1043983959
NM_198334.3(GANAB):c.11_16del (p.Val4_Ala5del) rs750723025
NM_198334.3(GANAB):c.1429T>C (p.Tyr477His)
NM_198334.3(GANAB):c.152_153del (p.Arg51fs) rs752158933
NM_198334.3(GANAB):c.1541A>C (p.Asn514Thr) rs1565094929
NM_198334.3(GANAB):c.1586A>C (p.Asn529Thr) rs1943599983
NM_198334.3(GANAB):c.1787G>A (p.Arg596His)
NM_198334.3(GANAB):c.1817C>G (p.Ala606Gly) rs1565093575
NM_198334.3(GANAB):c.1848_1849del (p.Asp618fs) rs879255641
NM_198334.3(GANAB):c.1870G>C (p.Asp624His)
NM_198334.3(GANAB):c.1936+1del
NM_198334.3(GANAB):c.1951TTC[1] (p.Phe652del) rs2134469853
NM_198334.3(GANAB):c.2021G>A (p.Arg674Gln) rs2134469442
NM_198334.3(GANAB):c.224C>T (p.Thr75Met)
NM_198334.3(GANAB):c.2293G>A (p.Val765Ile) rs2134460249
NM_198334.3(GANAB):c.2420G>C (p.Gly807Ala)
NM_198334.3(GANAB):c.2434C>T (p.Arg812Ter)
NM_198334.3(GANAB):c.2449C>T (p.Arg817Trp) rs879255643
NM_198334.3(GANAB):c.2516C>T (p.Thr839Ile)
NM_198334.3(GANAB):c.2590C>T (p.Arg864Ter) rs1210158408
NM_198334.3(GANAB):c.428C>A (p.Ala143Asp)
NM_198334.3(GANAB):c.490C>T (p.Arg164Ter) rs754785664
NM_198334.3(GANAB):c.517C>T (p.Arg173Ter)
NM_198334.3(GANAB):c.560+444A>C rs1943838983
NM_198334.3(GANAB):c.644_645del (p.Gln215fs)
NM_198334.3(GANAB):c.677G>A (p.Trp226Ter)
NM_198334.3(GANAB):c.760G>A (p.Glu254Lys)

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