ClinVar Miner

List of variants in gene GNPAT studied for Inborn genetic diseases

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_014236.4(GNPAT):c.629G>A (p.Arg210Gln) rs142283145 0.00185
NM_014236.4(GNPAT):c.1949G>A (p.Cys650Tyr) rs201099531 0.00046
NM_014236.4(GNPAT):c.1892C>T (p.Ala631Val) rs142487190 0.00036
NM_014236.4(GNPAT):c.1307C>T (p.Pro436Leu) rs757791949 0.00019
NM_014236.4(GNPAT):c.608T>A (p.Met203Lys) rs779199619 0.00019
NM_014236.4(GNPAT):c.286G>T (p.Val96Leu) rs139378588 0.00016
NM_014236.4(GNPAT):c.344G>A (p.Arg115His) rs760040100 0.00007
NM_014236.4(GNPAT):c.1036T>C (p.Ser346Pro) rs745935206 0.00004
NM_014236.4(GNPAT):c.1543C>T (p.Arg515Cys) rs774134716 0.00004
NM_014236.4(GNPAT):c.1451A>G (p.Gln484Arg) rs779383706 0.00002
NM_014236.4(GNPAT):c.706G>C (p.Ala236Pro) rs758663178 0.00002
NM_014236.4(GNPAT):c.1294G>A (p.Glu432Lys) rs762803958 0.00001
NM_014236.4(GNPAT):c.1553G>A (p.Arg518His) rs1450942011 0.00001
NM_014236.4(GNPAT):c.483T>G (p.Ser161Arg) rs1259353676 0.00001
NM_014236.4(GNPAT):c.1057T>A (p.Tyr353Asn)
NM_014236.4(GNPAT):c.1676C>G (p.Thr559Arg)
NM_014236.4(GNPAT):c.1709T>C (p.Val570Ala)
NM_014236.4(GNPAT):c.1909A>T (p.Arg637Trp)
NM_014236.4(GNPAT):c.1994T>C (p.Met665Thr)
NM_014236.4(GNPAT):c.281A>C (p.Gln94Pro)
NM_014236.4(GNPAT):c.570C>A (p.Asp190Glu)
NM_014236.4(GNPAT):c.643G>A (p.Gly215Ser)
NM_014236.4(GNPAT):c.842G>C (p.Ser281Thr)
NM_014236.4(GNPAT):c.944A>G (p.Lys315Arg)

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