ClinVar Miner

List of variants in gene NPAP1 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_018958.3(NPAP1):c.3106C>T (p.Leu1036Phe) rs142242477 0.00854
NM_018958.3(NPAP1):c.136C>T (p.Pro46Ser) rs199753715 0.00493
NM_018958.3(NPAP1):c.1039G>T (p.Asp347Tyr) rs34629208 0.00476
NM_018958.3(NPAP1):c.1393C>T (p.Leu465Phe) rs79339610 0.00375
NM_018958.3(NPAP1):c.498G>A (p.Pro166=) rs35737140 0.00295
NM_018958.3(NPAP1):c.2781C>T (p.Gly927=) rs149131090 0.00026
NM_018958.3(NPAP1):c.1027C>G (p.Pro343Ala)
NM_018958.3(NPAP1):c.1729A>G (p.Asn577Asp)
NM_018958.3(NPAP1):c.2142C>T (p.Ala714=)
NM_018958.3(NPAP1):c.2241T>C (p.Ser747=)
NM_018958.3(NPAP1):c.2409C>T (p.Thr803=)
NM_018958.3(NPAP1):c.278C>T (p.Ala93Val)
NM_018958.3(NPAP1):c.3028G>A (p.Gly1010Arg)
NM_018958.3(NPAP1):c.3302G>A (p.Gly1101Asp)
NM_018958.3(NPAP1):c.3456T>A (p.Cys1152Ter)
NM_018958.3(NPAP1):c.3462A>G (p.Gln1154=)
NM_018958.3(NPAP1):c.726A>G (p.Thr242=)

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