ClinVar Miner

List of variants in gene PITPNM3 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_031220.4(PITPNM3):c.699C>T (p.Val233=) rs149964592 0.00707
NM_031220.4(PITPNM3):c.541G>A (p.Val181Ile) rs61755430 0.00628
NM_031220.4(PITPNM3):c.2472G>A (p.Leu824=) rs144737056 0.00305
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His) rs76024428 0.00212
NM_031220.4(PITPNM3):c.1128G>A (p.Ala376=) rs146033772 0.00056
NM_031220.4(PITPNM3):c.1608C>T (p.Pro536=) rs186009079 0.00003
NM_031220.4(PITPNM3):c.1139C>T (p.Pro380Leu) rs536434931 0.00001
NM_031220.4(PITPNM3):c.*2281AG[4]
NM_031220.4(PITPNM3):c.*2316GA[6]
NM_031220.4(PITPNM3):c.*2381AG[5] rs553650590
NM_031220.4(PITPNM3):c.*3454G>C
NM_031220.4(PITPNM3):c.2696C>G (p.Ser899Trp) rs762714529
NM_031220.4(PITPNM3):c.61C>T (p.Arg21Ter)

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