ClinVar Miner

List of variants in gene MTPAP reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 102
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HGVS dbSNP gnomAD frequency
NM_018109.4(MTPAP):c.993-68G>A rs2484284 0.99933
NC_000010.11:g.30349429G>A rs2782976 0.99506
NM_018109.4(MTPAP):c.555+73G>A rs2689215 0.95687
NM_018109.4(MTPAP):c.781-74T>C rs1029172 0.95587
NM_018109.4(MTPAP):c.331-170C>A rs2252246 0.95502
NM_018109.4(MTPAP):c.992+163G>A rs2484286 0.93713
NM_018109.4(MTPAP):c.1220-271C>T rs2990499 0.69726
NM_018109.3(MTPAP):c.-311G>A rs3824709 0.40385
NM_018109.4(MTPAP):c.157+53G>C rs10826783 0.40140
NM_018109.4(MTPAP):c.556-47G>A rs12221163 0.40088
NM_018109.4(MTPAP):c.555+19C>T rs1047988 0.25271
NM_018109.4(MTPAP):c.484C>T (p.Arg162Cys) rs1047991 0.24641
NM_018109.4(MTPAP):c.993-228A>C rs2480295 0.21735
NM_018109.3(MTPAP):c.-393G>T rs2689212 0.21041
NM_018109.4(MTPAP):c.556-266C>T rs11007998 0.11640
NM_018109.4(MTPAP):c.780+211A>G rs913644 0.11208
NM_018109.4(MTPAP):c.1219+37C>G rs7085884 0.08998
NM_018109.3(MTPAP):c.-104C>T rs11815219 0.07429
NM_018109.4(MTPAP):c.555+118C>G rs74443112 0.05495
NM_018109.4(MTPAP):c.1386+107T>C rs77572290 0.05493
NM_018109.4(MTPAP):c.993-295C>T rs111939752 0.05031
NM_018109.4(MTPAP):c.781-54A>T rs34959427 0.03117
NM_018109.4(MTPAP):c.330+251C>T rs7893864 0.02716
NM_018109.4(MTPAP):c.555+326T>C rs77886882 0.02669
NM_018109.3(MTPAP):c.-255G>A rs3824710 0.02356
NM_018109.4(MTPAP):c.158-27G>A rs73236442 0.01828
NM_018109.4(MTPAP):c.1219+325A>G rs17229342 0.01821
NC_000010.11:g.30349362G>A rs868811693 0.01333
NM_018109.4(MTPAP):c.1387-97G>A rs77918654 0.01322
NM_018109.4(MTPAP):c.*146G>A rs34660258 0.01024
NM_018109.4(MTPAP):c.1219+89G>A rs113338057 0.00901
NC_000010.11:g.30349635C>T rs143478849 0.00718
NM_018109.4(MTPAP):c.330+303G>A rs138641626 0.00639
NM_018109.4(MTPAP):c.1387-295A>G rs76145367 0.00637
NC_000010.11:g.30349358G>A rs112277654 0.00626
NM_018109.4(MTPAP):c.331-151A>C rs147107474 0.00616
NM_018109.4(MTPAP):c.1219+192C>G rs112568913 0.00583
NM_018109.4(MTPAP):c.781-47G>A rs140715258 0.00487
NM_018109.4(MTPAP):c.158-9C>T rs139217290 0.00466
NM_018109.4(MTPAP):c.556-254C>T rs146014073 0.00464
NM_018109.4(MTPAP):c.1386+131G>A rs147001083 0.00446
NM_018109.4(MTPAP):c.1387-90A>G rs116325427 0.00403
NM_018109.4(MTPAP):c.1386+241C>T rs188849635 0.00399
NM_018109.4(MTPAP):c.158-50A>T rs190174353 0.00393
NM_018109.4(MTPAP):c.330+35A>G rs112602732 0.00391
NM_018109.4(MTPAP):c.158-131T>C rs544623710 0.00374
NM_018109.4(MTPAP):c.585G>A (p.Lys195=) rs144945655 0.00240
NM_018109.4(MTPAP):c.1637G>A (p.Ser546Asn) rs17855116 0.00217
NM_018109.4(MTPAP):c.780+30C>T rs115491062 0.00172
NM_018109.4(MTPAP):c.1278T>C (p.Ser426=) rs147355590 0.00055
NM_018109.4(MTPAP):c.1607C>G (p.Pro536Arg) rs147174746 0.00034
NM_018109.4(MTPAP):c.1312+3A>G rs117698926 0.00031
NM_018109.4(MTPAP):c.1313-3C>T rs201064853 0.00017
NM_018109.4(MTPAP):c.916T>C (p.Leu306=) rs191209359 0.00013
NM_018109.4(MTPAP):c.1628A>C (p.Lys543Thr) rs752913555 0.00012
NM_018109.4(MTPAP):c.486C>T (p.Arg162=) rs150489876 0.00007
NM_018109.4(MTPAP):c.1484T>G (p.Leu495Arg) rs1356166646 0.00006
NM_018109.4(MTPAP):c.1624A>G (p.Thr542Ala) rs756511637 0.00004
NM_018109.4(MTPAP):c.556-11C>T rs188101690 0.00004
NM_018109.4(MTPAP):c.1098A>G (p.Leu366=) rs375277572 0.00003
NM_018109.4(MTPAP):c.654C>T (p.Ala218=) rs761142787 0.00003
NM_018109.4(MTPAP):c.933G>A (p.Pro311=) rs562617019 0.00003
NM_018109.4(MTPAP):c.960C>T (p.Ser320=) rs185764766 0.00003
NM_018109.4(MTPAP):c.981T>A (p.Thr327=) rs1013212781 0.00003
NM_018109.4(MTPAP):c.1386+6T>C rs369322127 0.00002
NM_018109.4(MTPAP):c.1640A>G (p.Asn547Ser) rs372811219 0.00002
NM_018109.4(MTPAP):c.858T>C (p.Ser286=) rs373022016 0.00002
NM_018109.4(MTPAP):c.1036C>T (p.Leu346=) rs775249623 0.00001
NM_018109.4(MTPAP):c.1072C>T (p.Arg358Trp) rs918158750 0.00001
NM_018109.4(MTPAP):c.1228G>T (p.Asp410Tyr) rs756734198 0.00001
NM_018109.4(MTPAP):c.1244A>G (p.Glu415Gly) rs375942334 0.00001
NM_018109.4(MTPAP):c.1260A>G (p.Thr420=) rs1390957889 0.00001
NM_018109.4(MTPAP):c.1468G>A (p.Val490Ile) rs1057518710 0.00001
NM_018109.4(MTPAP):c.1491A>C (p.Lys497Asn) rs984681123 0.00001
NM_018109.4(MTPAP):c.386A>G (p.Asn129Ser) rs761483326 0.00001
NM_018109.4(MTPAP):c.772G>A (p.Ala258Thr) rs753119491 0.00001
NM_018109.4(MTPAP):c.807T>G (p.Phe269Leu) rs1211386034 0.00001
NM_018109.4(MTPAP):c.936C>T (p.Leu312=) rs750418719 0.00001
NC_000010.11:g.30349357A>G rs10826784
NC_000010.11:g.30349359_30349360insAG rs1554819278
NC_000010.11:g.30349360_30349361insAG rs150495221
NC_000010.11:g.30349360_30349361insAGG rs1554819279
NC_000010.11:g.30349364_30349366dup rs71525586
NC_000010.11:g.30349365_30349366dup rs71525586
NC_000010.11:g.30349366del rs71525586
NC_000010.11:g.30349366dup rs71525586
NM_018109.3(MTPAP):c.-27G>T rs773131360
NM_018109.4(MTPAP):c.1128A>G (p.Thr376=) rs1057523310
NM_018109.4(MTPAP):c.1294C>A (p.Gln432Lys)
NM_018109.4(MTPAP):c.1344T>G (p.Phe448Leu) rs2132844037
NM_018109.4(MTPAP):c.1386+114del rs142868943
NM_018109.4(MTPAP):c.255A>T (p.Lys85Asn)
NM_018109.4(MTPAP):c.321T>A (p.Tyr107Ter)
NM_018109.4(MTPAP):c.330+272A>G rs558044595
NM_018109.4(MTPAP):c.330+301A>C rs192571098
NM_018109.4(MTPAP):c.331-60_331-56del rs36002941
NM_018109.4(MTPAP):c.352T>G (p.Phe118Val) rs2132868006
NM_018109.4(MTPAP):c.556-198C>T rs112319038
NM_018109.4(MTPAP):c.582G>T (p.Leu194Phe) rs2538463745
NM_018109.4(MTPAP):c.600A>G (p.Thr200=) rs1245875438
NM_018109.4(MTPAP):c.780+266A>G rs73236434
NM_018109.4(MTPAP):c.937G>A (p.Val313Met)

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