ClinVar Miner

List of variants in gene PIKFYVE reported as likely benign by Illumina Laboratory Services, Illumina

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Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_015040.4(PIKFYVE):c.*1973_*1974insA rs199859183 0.01071
NM_015040.4(PIKFYVE):c.-166A>T rs530975785 0.00555
NM_015040.4(PIKFYVE):c.3804G>C (p.Gln1268His) rs767989671 0.00021
NM_015040.4(PIKFYVE):c.2459-10T>C rs751439088 0.00008
NM_015040.4(PIKFYVE):c.5137A>G (p.Ser1713Gly) rs376604887 0.00008
NM_015040.4(PIKFYVE):c.64A>C (p.Thr22Pro) rs373802805 0.00004
NM_015040.4(PIKFYVE):c.1468+15C>T rs781345811 0.00003
NM_015040.4(PIKFYVE):c.1946G>A (p.Arg649Gln) rs377372888 0.00003
NM_015040.4(PIKFYVE):c.6243C>T (p.Asp2081=) rs746132026 0.00003
NM_015040.4(PIKFYVE):c.1206A>G (p.Thr402=) rs745795722 0.00002
NM_015040.4(PIKFYVE):c.5727G>A (p.Ala1909=) rs147789704

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