ClinVar Miner

List of variants in gene PIK3R5 studied for cerebellar disorder

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001142633.3(PIK3R5):c.1075T>C (p.Leu359=) rs381309 0.47682
NM_001142633.3(PIK3R5):c.837C>T (p.His279=) rs394811 0.47651
NM_001142633.3(PIK3R5):c.657+41T>C rs381198 0.46158
NM_001142633.3(PIK3R5):c.2383-27T>C rs4791765 0.31643
NM_001142633.3(PIK3R5):c.2496-46A>G rs4791764 0.30344
NM_001142633.3(PIK3R5):c.2299+18T>G rs9903447 0.29072
NM_001142633.3(PIK3R5):c.933A>G (p.Leu311=) rs11650737 0.28596
NM_001142633.3(PIK3R5):c.1011C>T (p.Asp337=) rs16957702 0.28549
NM_001142633.3(PIK3R5):c.1101G>A (p.Ser367=) rs9915880 0.24687
NM_001142633.3(PIK3R5):c.2299+13G>A rs9902600 0.24618
NM_001142633.3(PIK3R5):c.205-21C>T rs92535 0.16172
NM_001142633.3(PIK3R5):c.1885C>T (p.Pro629Ser) rs61761068 0.00859
NM_001142633.3(PIK3R5):c.2557C>T (p.Pro853Ser) rs62620227 0.00280
NM_001142633.3(PIK3R5):c.470G>A (p.Arg157His) rs144891748 0.00071
NM_001142633.3(PIK3R5):c.1207C>T (p.Pro403Ser) rs775905402 0.00004
NM_001142633.3(PIK3R5):c.2425G>A (p.Gly809Ser) rs746906096 0.00001
NM_001142633.3(PIK3R5):c.13G>A (p.Ala5Thr)
NM_001142633.3(PIK3R5):c.1634G>A (p.Arg545His)
NM_001142633.3(PIK3R5):c.2338GTG[1] (p.Val781del)
NM_001142633.3(PIK3R5):c.2354A>G (p.Asn785Ser)
NM_001142633.3(PIK3R5):c.2555C>T (p.Thr852Met)

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