ClinVar Miner

List of variants in gene PPT1 studied for Inborn genetic diseases

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_000310.4(PPT1):c.401T>C (p.Ile134Thr) rs1800205 0.04289
NM_000310.4(PPT1):c.837G>C (p.Gln279His) rs72937434 0.02506
NM_000310.4(PPT1):c.*3C>A rs150454815 0.00889
NM_000310.4(PPT1):c.363-4G>A rs117284255 0.00318
NM_000310.4(PPT1):c.904A>G (p.Ile302Val) rs146902902 0.00091
NM_000310.4(PPT1):c.364A>T (p.Arg122Trp) rs137852695 0.00061
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter) rs137852700 0.00038
NM_000310.4(PPT1):c.329A>G (p.Asn110Ser) rs142894102 0.00010
NM_000310.4(PPT1):c.513G>A (p.Ala171=) rs150924738 0.00010
NM_000310.4(PPT1):c.363-5C>T rs112553480 0.00009
NM_000310.4(PPT1):c.802C>T (p.Arg268Cys) rs200813294 0.00008
NM_000310.4(PPT1):c.17G>A (p.Cys6Tyr) rs202241486 0.00006
NM_000310.4(PPT1):c.223A>C (p.Thr75Pro) rs137852696 0.00006
NM_000310.4(PPT1):c.541G>A (p.Val181Met) rs148412181 0.00006
NM_000310.4(PPT1):c.29T>A (p.Leu10Ter) rs137852699 0.00004
NM_000310.4(PPT1):c.535C>T (p.Arg179Cys) rs560471003 0.00004
NM_000310.4(PPT1):c.543G>A (p.Val181=) rs374121503 0.00004
NM_000310.4(PPT1):c.310A>G (p.Lys104Glu) rs386833641 0.00003
NM_000310.4(PPT1):c.587G>A (p.Arg196His) rs939858453 0.00003
NM_000310.4(PPT1):c.803G>A (p.Arg268His) rs763536047 0.00003
NM_000310.4(PPT1):c.14G>C (p.Gly5Ala) rs757580857 0.00002
NM_000310.4(PPT1):c.416T>C (p.Val139Ala) rs766961054 0.00002
NM_000310.4(PPT1):c.353G>A (p.Gly118Asp) rs143657539 0.00001
NM_000310.4(PPT1):c.3G>A (p.Met1Ile) rs386833645 0.00001
NM_000310.4(PPT1):c.433G>C (p.Gly145Arg) rs369186379 0.00001
NM_000310.4(PPT1):c.550G>A (p.Glu184Lys) rs386833655 0.00001
NM_000310.4(PPT1):c.900C>T (p.His300=) rs747432731 0.00001
NM_000310.4(PPT1):c.118G>A (p.Gly40Arg) rs1649899406
NM_000310.4(PPT1):c.17G>T (p.Cys6Phe) rs202241486
NM_000310.4(PPT1):c.189T>C (p.Pro63=)
NM_000310.4(PPT1):c.195T>A (p.Ile65=)
NM_000310.4(PPT1):c.26T>C (p.Leu9Pro)
NM_000310.4(PPT1):c.404A>G (p.Asn135Ser) rs1342695798
NM_000310.4(PPT1):c.474C>A (p.His158Gln)
NM_000310.4(PPT1):c.627+4A>G rs572153728
NM_000310.4(PPT1):c.629G>T (p.Gly210Val)
NM_000310.4(PPT1):c.635A>G (p.Asn212Ser)
NM_000310.4(PPT1):c.67G>A (p.Ala23Thr)
NM_000310.4(PPT1):c.802C>A (p.Arg268Ser)
NM_000310.4(PPT1):c.824A>T (p.Asp275Val) rs775402028

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