ClinVar Miner

List of variants in gene PPT1 reported as uncertain significance for not provided

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000310.4(PPT1):c.904A>G (p.Ile302Val) rs146902902 0.00091
NM_000310.4(PPT1):c.329A>G (p.Asn110Ser) rs142894102 0.00010
NM_000310.4(PPT1):c.802C>T (p.Arg268Cys) rs200813294 0.00008
NM_000310.4(PPT1):c.*6G>A rs113082671 0.00006
NM_000310.4(PPT1):c.535C>T (p.Arg179Cys) rs560471003 0.00004
NM_000310.4(PPT1):c.62C>T (p.Ser21Phe) rs796052922 0.00004
NM_000310.4(PPT1):c.810G>C (p.Gly270=) rs371213189 0.00004
NM_000310.4(PPT1):c.199G>A (p.Val67Ile) rs149945902 0.00003
NM_000310.4(PPT1):c.363G>T (p.Leu121=) rs201820661 0.00003
NM_000310.4(PPT1):c.676G>A (p.Val226Met) rs375190067 0.00003
NM_000310.4(PPT1):c.762A>C (p.Glu254Asp) rs146002450 0.00003
NM_000310.4(PPT1):c.416T>C (p.Val139Ala) rs766961054 0.00002
NM_000310.4(PPT1):c.875T>C (p.Leu292Ser) rs199708990 0.00002
NM_000310.4(PPT1):c.229A>G (p.Met77Val) rs587780425 0.00001
NM_000310.4(PPT1):c.334A>T (p.Met112Leu) rs760532726 0.00001
NM_000310.4(PPT1):c.433G>C (p.Gly145Arg) rs369186379 0.00001
NM_000310.4(PPT1):c.452G>A (p.Arg151Gln) rs779343776 0.00001
NM_000310.4(PPT1):c.472C>T (p.His158Tyr) rs754525635 0.00001
NM_000310.4(PPT1):c.536G>A (p.Arg179His) rs370069880 0.00001
NM_000310.4(PPT1):c.647A>G (p.Lys216Arg) rs1296750828 0.00001
NM_000310.4(PPT1):c.695A>G (p.Asn232Ser) rs768490419 0.00001
NM_000310.4(PPT1):c.722C>T (p.Ser241Leu) rs746043871 0.00001
NM_000310.4(PPT1):c.769C>A (p.Pro257Thr) rs201313087 0.00001
NM_000310.4(PPT1):c.86C>A (p.Pro29Gln) rs778256566 0.00001
NM_000310.4(PPT1):c.197A>G (p.Tyr66Cys) rs960648548
NM_000310.4(PPT1):c.271C>G (p.Gln91Glu) rs1557714047
NM_000310.4(PPT1):c.286T>C (p.Cys96Arg) rs2124487866
NM_000310.4(PPT1):c.433G>A (p.Gly145Ser) rs369186379
NM_000310.4(PPT1):c.635A>G (p.Asn212Ser)
NM_000310.4(PPT1):c.644A>G (p.Tyr215Cys) rs1557707259
NM_000310.4(PPT1):c.718G>A (p.Asp240Asn) rs796052926
NM_000310.4(PPT1):c.726+3G>T rs2124472206
NM_000310.4(PPT1):c.795A>G (p.Thr265=) rs886042714
NM_000310.4(PPT1):c.888G>A (p.Trp296Ter) rs386833670

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