ClinVar Miner

List of variants in gene PNPT1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_033109.5(PNPT1):c.1771A>C (p.Lys591Gln) rs542676905 0.00008
NM_033109.5(PNPT1):c.493C>T (p.Pro165Ser) rs151166046 0.00006
NM_033109.5(PNPT1):c.1471G>A (p.Gly491Arg) rs772291464 0.00005
NM_033109.5(PNPT1):c.1583G>A (p.Arg528His) rs367713105 0.00004
NM_033109.5(PNPT1):c.1078G>A (p.Asp360Asn)
NM_033109.5(PNPT1):c.1142A>G (p.His381Arg)
NM_033109.5(PNPT1):c.1196T>G (p.Phe399Cys)
NM_033109.5(PNPT1):c.1297G>A (p.Ala433Thr)
NM_033109.5(PNPT1):c.1399C>T (p.Pro467Ser) rs1696380450
NM_033109.5(PNPT1):c.1823-8C>G
NM_033109.5(PNPT1):c.2234T>C (p.Met745Thr) rs1425696642
NM_033109.5(PNPT1):c.449C>T (p.Thr150Ile)
NM_033109.5(PNPT1):c.830T>C (p.Phe277Ser)
NM_033109.5(PNPT1):c.919-7C>G

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