ClinVar Miner

List of variants in gene PNPT1 reported as benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_033109.5(PNPT1):c.1285-207G>T rs2586951 0.94217
NM_033109.5(PNPT1):c.977-228A>G rs782636 0.94091
NM_033109.5(PNPT1):c.1495+219G>A rs782569 0.94054
NM_033109.5(PNPT1):c.918+201T>C rs2627771 0.93905
NM_033109.5(PNPT1):c.1247+29C>T rs782604 0.93874
NM_033109.5(PNPT1):c.867-47T>A rs782631 0.92991
NM_033109.5(PNPT1):c.1390C>A (p.Arg464=) rs2627765 0.48848
NM_033109.5(PNPT1):c.1738+93A>T rs2627776 0.45619
NM_033109.5(PNPT1):c.1074-200C>T rs12329050 0.45616
NM_033109.5(PNPT1):c.1738+179C>T rs2627777 0.45595
NM_033109.5(PNPT1):c.680-69T>C rs782629 0.45260
NM_033109.5(PNPT1):c.867-244A>G rs782630 0.45253
NM_033109.5(PNPT1):c.976+251T>C rs782633 0.45238
NM_033109.5(PNPT1):c.976+164G>C rs782632 0.45229
NM_033109.5(PNPT1):c.1074-19A>G rs782637 0.45197
NM_033109.5(PNPT1):c.680-245T>C rs2627773 0.45118
NM_033109.5(PNPT1):c.361A>G (p.Ile121Val) rs782572 0.44915
NM_033109.5(PNPT1):c.222+159A>G rs809732 0.44900
NM_033109.5(PNPT1):c.918+200G>A rs2627772 0.44667
NM_033109.5(PNPT1):c.1284+116A>G rs7592219 0.30598
NM_033109.5(PNPT1):c.2070-98T>C rs34679603 0.30501
NM_033109.5(PNPT1):c.1177-305C>T rs13013133 0.29792
NM_033109.5(PNPT1):c.1738+9G>C rs7584120 0.18938
NM_033109.5(PNPT1):c.1285-227G>T rs17800203 0.18697
NM_033109.5(PNPT1):c.453+210A>G rs7586366 0.15545
NM_033109.5(PNPT1):c.1284+421C>T rs6725101 0.14914
NM_033109.5(PNPT1):c.1907-267T>C rs13383352 0.14833
NM_033109.5(PNPT1):c.1768A>G (p.Asn590Asp) rs7594497 0.14820
NM_033109.5(PNPT1):c.1496-223G>A rs12616982 0.14777
NM_033109.5(PNPT1):c.1822+225A>G rs12623293 0.12276
NM_033109.5(PNPT1):c.1176+36T>C rs13009649 0.11856
NM_033109.5(PNPT1):c.977-212A>G rs12993839 0.11716
NM_033109.5(PNPT1):c.1907-137A>G rs13015243 0.11086
NM_033109.5(PNPT1):c.297+233del rs35071585 0.08269
NM_033109.5(PNPT1):c.1177-293C>T rs56071955 0.08264
NM_033109.5(PNPT1):c.161+135A>G rs62165235 0.05391
NM_033109.5(PNPT1):c.161+49G>A rs73942924 0.04048
NM_033109.5(PNPT1):c.1074-228C>T rs114135308 0.03385
NM_033109.5(PNPT1):c.1074-15C>T rs76693423 0.03200
NM_033109.5(PNPT1):c.1738+37C>G rs72805494 0.02849
NM_033109.5(PNPT1):c.1823-221C>T rs113277272 0.02606
NM_033109.5(PNPT1):c.*71T>C rs72930820 0.02604
NM_033109.5(PNPT1):c.1602+189T>A rs72930831 0.02601
NM_033109.5(PNPT1):c.1823-226C>T rs113782020 0.02598
NM_033109.5(PNPT1):c.2149-304C>A rs112812946 0.02573
NM_033109.5(PNPT1):c.2070-5T>C rs145739483 0.00699
NM_033109.5(PNPT1):c.1251G>A (p.Gly417=) rs146111948 0.00507
NM_033109.5(PNPT1):c.944A>G (p.Lys315Arg) rs35405862 0.00492
NM_033109.5(PNPT1):c.906C>T (p.Tyr302=) rs149239772 0.00318
NM_033109.5(PNPT1):c.566-6T>C rs190658831 0.00311
NM_033109.5(PNPT1):c.1074-4A>T rs146742085 0.00287
NM_033109.5(PNPT1):c.852G>C (p.Val284=) rs139091915 0.00259
NM_033109.5(PNPT1):c.1632C>T (p.Asp544=) rs146554440 0.00083
NM_033109.5(PNPT1):c.1938G>A (p.Thr646=) rs201681772 0.00078
NM_033109.5(PNPT1):c.*11dup rs35916020
NM_033109.5(PNPT1):c.*260_*261del rs3069394
NM_033109.5(PNPT1):c.*298TAGA[1] rs3838524
NM_033109.5(PNPT1):c.1073+276del rs61218984
NM_033109.5(PNPT1):c.1495+55_1495+80del rs148083902
NM_033109.5(PNPT1):c.1603-291_1603-288del rs56340299
NM_033109.5(PNPT1):c.1674+20del rs149526231
NM_033109.5(PNPT1):c.1907-314del rs56391931
NM_033109.5(PNPT1):c.2149-13dup rs532500568
NM_033109.5(PNPT1):c.222+196dup rs11386711
NM_033109.5(PNPT1):c.453+154dup rs397943177
NM_033109.5(PNPT1):c.454-264C>G rs782619
NM_033109.5(PNPT1):c.565+286del rs35483599
NM_033109.5(PNPT1):c.680-27dup rs146633902
NM_033109.5(PNPT1):c.861T>A (p.Thr287=) rs150220872

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