ClinVar Miner

List of variants in gene PNPT1 reported by GeneDx

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 208
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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.1738+271G>A rs112074939 0.04139
NM_033109.5(PNPT1):c.161+49G>A rs73942924 0.04048
NM_033109.5(PNPT1):c.565+90C>T rs17744399 0.03929
NM_033109.5(PNPT1):c.1074-228C>T rs114135308 0.03385
NM_033109.5(PNPT1):c.1602+150A>G rs114335719 0.03309
NM_033109.5(PNPT1):c.1074-15C>T rs76693423 0.03200
NM_033109.5(PNPT1):c.1739-150A>G rs72805490 0.02861
NM_033109.5(PNPT1):c.1738+37C>G rs72805494 0.02849
NM_033109.5(PNPT1):c.679+265A>G rs145458797 0.02775
NM_033109.5(PNPT1):c.223-65G>T rs72807624 0.02665
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.297+37T>A rs143717902 0.01361
NM_033109.5(PNPT1):c.2197-62A>G rs113275808 0.01204
NM_033109.5(PNPT1):c.2196+284G>A rs141410243 0.00933
NM_033109.5(PNPT1):c.1284+217T>C rs115106726 0.00860
NM_033109.5(PNPT1):c.1442-159T>A rs190655176 0.00794
NM_033109.5(PNPT1):c.453+246C>T rs145732469 0.00788
NM_033109.5(PNPT1):c.1177-175T>C rs80188963 0.00728
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.297+299C>T rs190688070 0.00377
NM_033109.5(PNPT1):c.1285-59A>G rs192366640 0.00341
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.*159T>A rs568249156 0.00307
NM_033109.5(PNPT1):c.1074-4A>T rs146742085 0.00287
NM_033109.5(PNPT1):c.918+38A>G rs192702436 0.00281
NM_033109.5(PNPT1):c.852G>C (p.Val284=) rs139091915 0.00259
NM_033109.5(PNPT1):c.1073+139C>T rs185893564 0.00234
NM_033109.5(PNPT1):c.2197-35G>C rs57254503 0.00222
NM_033109.5(PNPT1):c.1442-44A>T rs140059234 0.00210
NM_033109.5(PNPT1):c.679+49C>G rs112396033 0.00210
NM_033109.5(PNPT1):c.862C>T (p.His288Tyr) rs141543222 0.00157
NM_033109.5(PNPT1):c.1074-41T>A rs72807607 0.00149
NM_033109.5(PNPT1):c.688G>C (p.Glu230Gln) rs34928857 0.00131
NM_033109.5(PNPT1):c.412A>G (p.Ile138Val) rs76401964 0.00111
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile) rs146571352 0.00109
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.161+6G>C rs146068304 0.00056
NM_033109.5(PNPT1):c.223-9A>T rs202243908 0.00054
NM_033109.5(PNPT1):c.298-10G>T rs376098570 0.00045
NM_033109.5(PNPT1):c.2149-18T>A rs142979302 0.00042
NM_033109.5(PNPT1):c.1248-16T>C rs374813287 0.00041
NM_033109.5(PNPT1):c.1676C>G (p.Ala559Gly) rs149843729 0.00038
NM_033109.5(PNPT1):c.2149-11T>G rs138300494 0.00036
NM_033109.5(PNPT1):c.1099C>T (p.Leu367Phe) rs142840568 0.00029
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser) rs143712760 0.00026
NM_033109.5(PNPT1):c.1795T>A (p.Ser599Thr) rs147375807 0.00026
NM_033109.5(PNPT1):c.1929T>C (p.Asp643=) rs149102879 0.00019
NM_033109.5(PNPT1):c.2148+6A>T rs374690825 0.00018
NM_033109.5(PNPT1):c.1907G>A (p.Gly636Asp) rs143197548 0.00014
NM_033109.5(PNPT1):c.1619A>G (p.Asn540Ser) rs202190573 0.00010
NM_033109.5(PNPT1):c.40C>T (p.Arg14Trp) rs199712282 0.00010
NM_033109.5(PNPT1):c.1189G>A (p.Val397Ile) rs200016391 0.00009
NM_033109.5(PNPT1):c.2149-19T>C rs370060385 0.00009
NM_033109.5(PNPT1):c.516C>T (p.Gly172=) rs372627112 0.00009
NM_033109.5(PNPT1):c.1592C>G (p.Thr531Arg) rs374698153 0.00008
NM_033109.5(PNPT1):c.1771A>C (p.Lys591Gln) rs542676905 0.00008
NM_033109.5(PNPT1):c.1495+12A>G rs368159642 0.00007
NM_033109.5(PNPT1):c.397A>G (p.Ile133Val) rs756714219 0.00007
NM_033109.5(PNPT1):c.789A>G (p.Val263=) rs76180666 0.00007
NM_033109.5(PNPT1):c.1834G>T (p.Val612Phe) rs752148258 0.00006
NM_033109.5(PNPT1):c.493C>T (p.Pro165Ser) rs151166046 0.00006
NM_033109.5(PNPT1):c.667A>G (p.Lys223Glu) rs752759589 0.00006
NM_033109.5(PNPT1):c.1471G>A (p.Gly491Arg) rs772291464 0.00005
NM_033109.5(PNPT1):c.1496-10C>T rs372005055 0.00004
NM_033109.5(PNPT1):c.1583G>A (p.Arg528His) rs367713105 0.00004
NM_033109.5(PNPT1):c.1725T>C (p.Ile575=) rs574251894 0.00004
NM_033109.5(PNPT1):c.1982G>A (p.Arg661Lys) rs201269381 0.00004
NM_033109.5(PNPT1):c.472G>T (p.Ala158Ser) rs766919363 0.00004
NM_033109.5(PNPT1):c.1382T>C (p.Val461Ala) rs752666494 0.00003
NM_033109.5(PNPT1):c.1566T>A (p.Gly522=) rs754237697 0.00003
NM_033109.5(PNPT1):c.1756T>C (p.Leu586=) rs750328203 0.00003
NM_033109.5(PNPT1):c.2224G>A (p.Asp742Asn) rs187750584 0.00003
NM_033109.5(PNPT1):c.419C>T (p.Pro140Leu) rs572684828 0.00003
NM_033109.5(PNPT1):c.649G>A (p.Val217Met) rs758922668 0.00003
NM_033109.5(PNPT1):c.673C>G (p.Gln225Glu) rs891974446 0.00003
NM_033109.5(PNPT1):c.1074-12A>G rs374508862 0.00002
NM_033109.5(PNPT1):c.1284+10A>C rs780025637 0.00002
NM_033109.5(PNPT1):c.1442-4A>G rs1027454741 0.00002
NM_033109.5(PNPT1):c.1907-17C>T rs771144492 0.00002
NM_033109.5(PNPT1):c.2147A>G (p.Lys716Arg) rs1318691269 0.00002
NM_033109.5(PNPT1):c.251C>T (p.Ala84Val) rs145552327 0.00002
NM_033109.5(PNPT1):c.466C>G (p.Leu156Val) rs779832293 0.00002
NM_033109.5(PNPT1):c.575G>A (p.Arg192Gln) rs772153760 0.00002
NM_033109.5(PNPT1):c.680-10C>T rs1553499878 0.00002
NM_033109.5(PNPT1):c.1022A>G (p.Asn341Ser) rs759908051 0.00001
NM_033109.5(PNPT1):c.1176+41A>T rs375449448 0.00001
NM_033109.5(PNPT1):c.1357C>T (p.Leu453Phe) rs141173235 0.00001
NM_033109.5(PNPT1):c.1361C>G (p.Ala454Gly) rs200088200 0.00001
NM_033109.5(PNPT1):c.1470C>T (p.Gly490=) rs773370891 0.00001
NM_033109.5(PNPT1):c.1758A>C (p.Leu586Phe) rs767387569 0.00001
NM_033109.5(PNPT1):c.192C>G (p.Ala64=) rs748159230 0.00001
NM_033109.5(PNPT1):c.2213G>A (p.Arg738His) rs574670461 0.00001
NM_033109.5(PNPT1):c.2261C>T (p.Ser754Leu) rs756689143 0.00001
NM_033109.5(PNPT1):c.298-13A>G rs368942791 0.00001
NM_033109.5(PNPT1):c.418C>T (p.Pro140Ser) rs771597979 0.00001
NM_033109.5(PNPT1):c.423C>T (p.Leu141=) rs777911727 0.00001
NM_033109.5(PNPT1):c.517G>A (p.Ala173Thr) rs774425075 0.00001
NM_033109.5(PNPT1):c.977-4A>G rs778656630 0.00001
GRCh37/hg19 2p16.1(chr2:55910769-55921261)x3
GRCh37/hg19 2p16.1(chr2:55910804-55921261)x3
NM_033109.4(PNPT1):c.-48G>A rs747523552
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.1066T>C (p.Tyr356His) rs2104109848
NM_033109.5(PNPT1):c.1073+276del rs61218984
NM_033109.5(PNPT1):c.1141C>T (p.His381Tyr) rs267599414
NM_033109.5(PNPT1):c.1149A>G (p.Ser383=) rs1057521830
NM_033109.5(PNPT1):c.1174_1175del (p.Gln392fs) rs1064793593
NM_033109.5(PNPT1):c.1175A>C (p.Gln392Pro)
NM_033109.5(PNPT1):c.1176+7T>C rs1057522265
NM_033109.5(PNPT1):c.1176+7del rs781277694
NM_033109.5(PNPT1):c.1231G>A (p.Val411Ile) rs551750608
NM_033109.5(PNPT1):c.1251G>T (p.Gly417=) rs146111948
NM_033109.5(PNPT1):c.1284+131del rs145132253
NM_033109.5(PNPT1):c.1374G>A (p.Leu458=) rs1572809030
NM_033109.5(PNPT1):c.1453A>G (p.Met485Val) rs767310806
NM_033109.5(PNPT1):c.1495+55_1495+80del rs148083902
NM_033109.5(PNPT1):c.1563G>A (p.Lys521=) rs863224169
NM_033109.5(PNPT1):c.1603-291_1603-288del rs56340299
NM_033109.5(PNPT1):c.162-289del rs139811313
NM_033109.5(PNPT1):c.162-298dup rs139811313
NM_033109.5(PNPT1):c.1674+20del rs149526231
NM_033109.5(PNPT1):c.1717G>C (p.Glu573Gln)
NM_033109.5(PNPT1):c.1846A>G (p.Lys616Glu)
NM_033109.5(PNPT1):c.1906+10delinsCAT rs1064795243
NM_033109.5(PNPT1):c.1907-314del rs56391931
NM_033109.5(PNPT1):c.1913C>T (p.Thr638Ile) rs375324746
NM_033109.5(PNPT1):c.1960C>T (p.Pro654Ser) rs765801538
NM_033109.5(PNPT1):c.2039C>T (p.Ala680Val) rs1402295663
NM_033109.5(PNPT1):c.2043A>G (p.Val681=) rs544405485
NM_033109.5(PNPT1):c.2058A>C (p.Ile686=) rs1572795877
NM_033109.5(PNPT1):c.2070-16A>C rs768971285
NM_033109.5(PNPT1):c.2105T>C (p.Met702Thr)
NM_033109.5(PNPT1):c.2149-13dup rs532500568
NM_033109.5(PNPT1):c.222+196dup rs11386711
NM_033109.5(PNPT1):c.223-13C>G rs200156764
NM_033109.5(PNPT1):c.223-13C>T rs200156764
NM_033109.5(PNPT1):c.223-1G>A
NM_033109.5(PNPT1):c.2259G>T (p.Gln753His)
NM_033109.5(PNPT1):c.2298_2300del (p.Arg766del)
NM_033109.5(PNPT1):c.299T>G (p.Val100Gly)
NM_033109.5(PNPT1):c.385C>G (p.Leu129Val)
NM_033109.5(PNPT1):c.395G>A (p.Arg132Gln) rs1320187955
NM_033109.5(PNPT1):c.404-10C>A rs1057522292
NM_033109.5(PNPT1):c.404-5G>T rs1156874425
NM_033109.5(PNPT1):c.407G>A (p.Arg136His) rs746356243
NM_033109.5(PNPT1):c.429A>G (p.Pro143=) rs758544175
NM_033109.5(PNPT1):c.453+154dup rs397943177
NM_033109.5(PNPT1):c.453+172del rs397943177
NM_033109.5(PNPT1):c.454-18dup rs1064794498
NM_033109.5(PNPT1):c.454-264C>G rs782619
NM_033109.5(PNPT1):c.521C>T (p.Ser174Phe) rs1553501171
NM_033109.5(PNPT1):c.565+279_565+286del rs35483599
NM_033109.5(PNPT1):c.565+286del rs35483599
NM_033109.5(PNPT1):c.574C>T (p.Arg192Ter)
NM_033109.5(PNPT1):c.680-27dup rs146633902
NM_033109.5(PNPT1):c.695C>T (p.Ser232Phe)
NM_033109.5(PNPT1):c.716A>C (p.Gln239Pro) rs766647494
NM_033109.5(PNPT1):c.739G>T (p.Val247Leu) rs574988767
NM_033109.5(PNPT1):c.861T>A (p.Thr287=) rs150220872
NM_033109.5(PNPT1):c.872C>T (p.Ala291Val) rs1696933161
NM_033109.5(PNPT1):c.892G>C (p.Val298Leu)
NM_033109.5(PNPT1):c.918+153GTTTT[2] rs147416432

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