ClinVar Miner

List of variants in gene PIK3C2A studied for ciliopathy

Included ClinVar conditions (273):
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Gene type:
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_002645.4(PIK3C2A):c.1239A>G (p.Ala413=) rs2302511 0.94735
NM_002645.4(PIK3C2A):c.*13T>C rs10832733 0.57555
NM_002645.4(PIK3C2A):c.3681+46G>A rs2052188 0.42654
NM_002645.4(PIK3C2A):c.270T>C (p.Ile90=) rs214936 0.42543
NM_002645.4(PIK3C2A):c.3036-37C>A rs147891939 0.24758
NM_002645.4(PIK3C2A):c.4243A>G (p.Thr1415Ala) rs11604561 0.11089
NM_001321380.2(PIK3C2A):c.-75-13528T>G rs1565287817
NM_002645.3(PIK3C2A):c.(?_1-1)_4007+1_4008-1)del
NM_002645.4(PIK3C2A):c.1640+1G>T rs1565272952

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