ClinVar Miner

List of variants in gene PPT1 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 131
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HGVS dbSNP gnomAD frequency
NM_000310.4(PPT1):c.125-77G>C rs4481840 0.99450
NM_000310.4(PPT1):c.433+79A>G rs3122439 0.99388
NM_000310.3(PPT1):c.-83A>G rs6600313 0.84142
NM_000310.4(PPT1):c.627+105A>C rs3122428 0.73832
NM_000310.4(PPT1):c.*657G>A rs1126973 0.70258
NM_000310.4(PPT1):c.*285T>G rs1126970 0.69809
NM_000310.4(PPT1):c.*505C>G rs1126972 0.69788
NM_000310.4(PPT1):c.*526_*529dup rs397730033 0.65899
NM_000310.4(PPT1):c.362+61C>T rs6672053 0.64379
NM_000310.4(PPT1):c.125-332T>C rs4630120 0.64371
NM_000310.4(PPT1):c.434-137G>A rs3131651 0.50933
NM_000310.4(PPT1):c.536+246C>T rs61475499 0.15023
NM_000310.4(PPT1):c.799-330C>A rs6698184 0.11752
NM_000310.4(PPT1):c.*161T>C rs11552578 0.11358
NM_000310.4(PPT1):c.434-215G>A rs7543269 0.10209
NM_000310.4(PPT1):c.433+59T>A rs56654546 0.09378
NM_000310.3(PPT1):c.-109C>A rs41301070 0.08852
NM_000310.4(PPT1):c.537-50G>A rs77623018 0.05512
NM_000310.4(PPT1):c.434-90G>C rs6689837 0.05108
NM_000310.4(PPT1):c.536+40G>A rs61692809 0.04872
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.124+336C>T rs113638666 0.02371
NC_000001.11:g.40097614T>A rs116393100 0.01765
NM_000310.4(PPT1):c.*456A>G rs76250039 0.01107
NM_000310.4(PPT1):c.537-253C>T rs60246759 0.00986
NM_000310.4(PPT1):c.362+141T>G rs77927623 0.00962
NM_000310.4(PPT1):c.*3C>A rs150454815 0.00889
NM_000310.4(PPT1):c.434-290T>G rs114162312 0.00763
NM_000310.4(PPT1):c.536+25T>C rs16826876 0.00744
NM_000310.4(PPT1):c.363-18C>G rs143235344 0.00531
NM_000310.3(PPT1):c.-201G>A rs116091180 0.00428
NM_000310.4(PPT1):c.363-232T>G rs543535528 0.00377
NM_000310.4(PPT1):c.*708A>C rs368715899 0.00355
NM_000310.4(PPT1):c.798+224A>G rs370347634 0.00355
NM_000310.4(PPT1):c.124+325T>C rs146759503 0.00343
NM_000310.4(PPT1):c.363-4G>A rs117284255 0.00318
NM_000310.4(PPT1):c.363-106C>T rs76584099 0.00287
NM_000310.4(PPT1):c.537-248C>T rs75640220 0.00272
NM_000310.4(PPT1):c.*12T>C rs199882794 0.00129
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.799-19A>C rs367820578 0.00046
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter) rs137852700 0.00038
NM_000310.4(PPT1):c.798+8G>A rs368106574 0.00018
NM_000310.4(PPT1):c.657G>C (p.Leu219=) rs773591614 0.00011
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.234+6G>A rs587781122 0.00007
NM_000310.4(PPT1):c.*6G>A rs113082671 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.198C>T (p.Tyr66=) rs200035288 0.00004
NM_000310.4(PPT1):c.29T>A (p.Leu10Ter) rs137852699 0.00004
NM_000310.4(PPT1):c.363-19A>G rs587781124 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.62C>T (p.Ser21Phe) rs796052922 0.00004
NM_000310.3(PPT1):c.-29C>G rs587781125 0.00003
NM_000310.4(PPT1):c.199G>A (p.Val67Ile) rs149945902 0.00003
NM_000310.4(PPT1):c.2T>C (p.Met1Thr) rs796052927 0.00003
NM_000310.4(PPT1):c.310A>G (p.Lys104Glu) rs386833641 0.00003
NM_000310.4(PPT1):c.363G>T (p.Leu121=) rs201820661 0.00003
NM_000310.4(PPT1):c.529C>G (p.Gln177Glu) rs386833650 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.141T>C (p.Asn47=) rs756148014 0.00002
NM_000310.4(PPT1):c.237C>T (p.Asp79=) rs373867152 0.00002
NM_000310.4(PPT1):c.369A>G (p.Ala123=) rs138951598 0.00002
NM_000310.4(PPT1):c.416T>C (p.Val139Ala) rs766961054 0.00002
NM_000310.4(PPT1):c.627+8C>T rs1427848229 0.00002
NM_000310.4(PPT1):c.726+9C>T rs1024088820 0.00002
NM_000310.4(PPT1):c.798+19A>G rs774008808 0.00002
NM_000310.4(PPT1):c.125-5G>A rs777893002 0.00001
NM_000310.4(PPT1):c.177G>A (p.Glu59=) rs1322148659 0.00001
NM_000310.4(PPT1):c.18C>T (p.Cys6=) rs765938149 0.00001
NM_000310.4(PPT1):c.234+18T>C rs372965402 0.00001
NM_000310.4(PPT1):c.288T>C (p.Cys96=) rs375820734 0.00001
NM_000310.4(PPT1):c.325T>G (p.Tyr109Asp) rs386833642 0.00001
NM_000310.4(PPT1):c.334A>T (p.Met112Leu) rs760532726 0.00001
NM_000310.4(PPT1):c.3G>A (p.Met1Ile) rs386833645 0.00001
NM_000310.4(PPT1):c.424C>T (p.Gln142Ter) rs796052925 0.00001
NM_000310.4(PPT1):c.43C>T (p.Leu15=) rs1057522283 0.00001
NM_000310.4(PPT1):c.452G>A (p.Arg151Gln) rs779343776 0.00001
NM_000310.4(PPT1):c.536G>A (p.Arg179His) rs370069880 0.00001
NM_000310.4(PPT1):c.537-4A>G rs587781120 0.00001
NM_000310.4(PPT1):c.627+15C>T rs566932238 0.00001
NM_000310.4(PPT1):c.639G>A (p.Glu213=) rs751303272 0.00001
NM_000310.4(PPT1):c.740A>G (p.Tyr247Cys) rs764051026 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.124+280GCA[3] rs5773687
NM_000310.4(PPT1):c.125-166A>T rs4492608
NM_000310.4(PPT1):c.125-188_125-185del rs72144657
NM_000310.4(PPT1):c.125-281_125-280insTTTCACATGCT rs113022418
NM_000310.4(PPT1):c.169dup (p.Met57fs) rs386833634
NM_000310.4(PPT1):c.197A>G (p.Tyr66Cys) rs960648548
NM_000310.4(PPT1):c.234+1G>A rs796052923
NM_000310.4(PPT1):c.235-20C>A rs587781123
NM_000310.4(PPT1):c.236A>G (p.Asp79Gly) rs137852697
NM_000310.4(PPT1):c.27C>G (p.Leu9=) rs765173260
NM_000310.4(PPT1):c.286T>C (p.Cys96Arg) rs2124487866
NM_000310.4(PPT1):c.362+11T>A rs1553167465
NM_000310.4(PPT1):c.362+164dup rs11308805
NM_000310.4(PPT1):c.362+179del rs11308805
NM_000310.4(PPT1):c.362+18A>T rs201717598
NM_000310.4(PPT1):c.362+5G>A rs796052924
NM_000310.4(PPT1):c.390A>G (p.Ser130=) rs1057522741
NM_000310.4(PPT1):c.433+5C>G rs1553167414
NM_000310.4(PPT1):c.433+7_433+8del rs750997143
NM_000310.4(PPT1):c.455del (p.Cys152fs) rs886041568
NM_000310.4(PPT1):c.474C>T (p.His158=) rs549251715
NM_000310.4(PPT1):c.536+10G>A rs1293510783
NM_000310.4(PPT1):c.541G>C (p.Val181Leu) rs148412181
NM_000310.4(PPT1):c.541G>T (p.Val181Leu) rs148412181
NM_000310.4(PPT1):c.627+4A>G rs572153728
NM_000310.4(PPT1):c.628-163del rs151295763
NM_000310.4(PPT1):c.628-172dup rs151295763
NM_000310.4(PPT1):c.635A>G (p.Asn212Ser)
NM_000310.4(PPT1):c.674T>C (p.Phe225Ser) rs386833662
NM_000310.4(PPT1):c.718G>A (p.Asp240Asn) rs796052926
NM_000310.4(PPT1):c.727-2A>T rs386833664
NM_000310.4(PPT1):c.798+16T>G rs1553166332
NM_000310.4(PPT1):c.799-193GAAA[2] rs199974761
NM_000310.4(PPT1):c.799-247C>G rs3131663
NM_000310.4(PPT1):c.799-288_799-287del rs540995323
NM_000310.4(PPT1):c.799-290_799-287del rs540995323
NM_000310.4(PPT1):c.799-300AAGA[2] rs35355845
NM_000310.4(PPT1):c.888G>A (p.Trp296Ter) rs386833670

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