ClinVar Miner

List of variants in gene ABCD4 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 160
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HGVS dbSNP gnomAD frequency
NM_005050.4(ABCD4):c.1753-46A>G rs929449 0.99998
NM_005050.4(ABCD4):c.426-219A>G rs7156792 0.98108
NM_005050.4(ABCD4):c.38+276G>A rs4148073 0.57684
NM_005050.4(ABCD4):c.39-157C>T rs7158118 0.57339
NM_005050.4(ABCD4):c.910G>A (p.Ala304Thr) rs4148077 0.30526
NM_005050.4(ABCD4):c.1102G>A (p.Glu368Lys) rs3742801 0.30506
NM_005050.4(ABCD4):c.719+267T>C rs3742800 0.30504
NM_005050.4(ABCD4):c.981C>A (p.Leu327=) rs4148078 0.29827
NM_005050.4(ABCD4):c.184T>C (p.Leu62=) rs2301345 0.29779
NM_005050.4(ABCD4):c.543-116G>A rs2074945 0.29776
NM_005050.4(ABCD4):c.*262T>G rs2466 0.17700
NM_005050.4(ABCD4):c.*188C>T rs8618 0.07563
NM_005050.4(ABCD4):c.286-154C>T rs74063842 0.07138
NM_005050.4(ABCD4):c.176A>G (p.Gln59Arg) rs58272575 0.07062
NM_005050.4(ABCD4):c.1420-26T>C rs74063804 0.06992
NM_005050.4(ABCD4):c.1560-12A>C rs74061802 0.06985
NM_005050.4(ABCD4):c.720-123T>G rs74063819 0.06985
NM_005050.4(ABCD4):c.720-135C>G rs74063820 0.06985
NM_005050.4(ABCD4):c.543-88T>C rs74063830 0.06984
NM_005050.4(ABCD4):c.1637-187T>G rs8011290 0.06983
NM_005050.4(ABCD4):c.426-302A>G rs56188138 0.06983
NM_005050.4(ABCD4):c.543-174A>G rs74063831 0.06983
NM_005050.4(ABCD4):c.668+7C>T rs61757464 0.06982
NM_005050.4(ABCD4):c.1636+10C>T rs74061801 0.06981
NM_005050.4(ABCD4):c.383C>T (p.Ala128Val) rs61744947 0.06981
NM_005050.4(ABCD4):c.1029-43C>T rs74063810 0.06978
NM_005050.4(ABCD4):c.1533C>T (p.Gly511=) rs57773157 0.06977
NM_005050.4(ABCD4):c.1028+79A>G rs74063811 0.06975
NM_005050.4(ABCD4):c.1118+212C>G rs7158376 0.06975
NM_005050.4(ABCD4):c.1559+153T>C rs56986616 0.06975
NM_005050.4(ABCD4):c.719+155C>T rs7144142 0.06975
NM_005050.4(ABCD4):c.286-142A>C rs74063840 0.06974
NM_005050.4(ABCD4):c.492C>G (p.Leu164=) rs36031534 0.06974
NM_005050.4(ABCD4):c.425+225C>T rs74063838 0.06973
NM_005050.4(ABCD4):c.1302G>A (p.Leu434=) rs11845976 0.06972
NM_005050.4(ABCD4):c.285+162G>A rs7151642 0.06971
NM_005050.4(ABCD4):c.1419+21T>C rs11845047 0.06967
NM_005050.4(ABCD4):c.815-13G>C rs74063815 0.06964
NM_005050.4(ABCD4):c.425+297C>T rs74063835 0.06963
NM_005050.4(ABCD4):c.815-83C>T rs74063816 0.06963
NM_005050.4(ABCD4):c.858C>T (p.Tyr286=) rs1052000 0.06963
NM_005050.4(ABCD4):c.814+125A>G rs74063818 0.06956
NM_005050.4(ABCD4):c.1457-164A>G rs55737040 0.06936
NM_005050.4(ABCD4):c.1457-173C>G rs56200118 0.06935
NM_005050.4(ABCD4):c.1119-90C>T rs11846150 0.06931
NM_005050.4(ABCD4):c.1457-208T>C rs60940187 0.06927
NM_005050.4(ABCD4):c.1457-209T>A rs55807426 0.06925
NM_005050.4(ABCD4):c.1119-172G>C rs11846127 0.06898
NM_005050.4(ABCD4):c.1456+302A>G rs114317891 0.06898
NM_005050.4(ABCD4):c.1456+317dup rs144338325 0.06799
NM_005050.4(ABCD4):c.514G>A (p.Val172Ile) rs34992370 0.06330
NM_005050.4(ABCD4):c.*52G>A rs1052008 0.06181
NM_005050.4(ABCD4):c.285+290A>G rs74063848 0.05688
NM_005050.4(ABCD4):c.719+127C>T rs7144157 0.04846
NM_005050.4(ABCD4):c.*23G>A rs1052006 0.04500
NM_005050.4(ABCD4):c.157+165G>A rs7152717 0.03496
NM_005050.4(ABCD4):c.*120A>G rs1052022 0.02970
NM_005050.4(ABCD4):c.1119-163T>C rs72730107 0.02632
NM_005050.4(ABCD4):c.1637-297A>G rs113034470 0.01789
NM_005050.4(ABCD4):c.1637-146C>G rs4148080 0.01788
NM_005050.4(ABCD4):c.1752+41C>T rs3742803 0.01788
NM_005050.4(ABCD4):c.719+240G>A rs4148076 0.01783
NM_005050.4(ABCD4):c.425+48T>A rs74063839 0.01740
NM_005050.4(ABCD4):c.543-171T>C rs114200701 0.01576
NM_005050.4(ABCD4):c.1419+183A>G rs114896206 0.01130
NM_005050.4(ABCD4):c.158-75G>A rs78016754 0.00937
NM_005050.4(ABCD4):c.195T>C (p.Ser65=) rs35417609 0.00937
NM_005050.4(ABCD4):c.286-153G>A rs146373050 0.00888
NM_005050.4(ABCD4):c.286-72C>T rs139038186 0.00872
NM_005050.4(ABCD4):c.1028+6G>T rs115783644 0.00836
NM_005050.4(ABCD4):c.542+42G>T rs115784704 0.00836
NM_005050.4(ABCD4):c.669-13T>G rs144451801 0.00836
NM_005050.4(ABCD4):c.38+276del rs538530917 0.00835
NM_005050.4(ABCD4):c.158-108G>A rs192001181 0.00827
NM_005050.4(ABCD4):c.158-93C>T rs147815787 0.00771
NM_005050.4(ABCD4):c.10G>C (p.Ala4Pro) rs139863822 0.00711
NM_005050.4(ABCD4):c.286-122C>T rs17099277 0.00711
NM_005050.4(ABCD4):c.1560-138A>G rs114247742 0.00687
NM_005050.4(ABCD4):c.543-146A>C rs17099269 0.00681
NM_005050.4(ABCD4):c.39-141C>T rs7158111 0.00607
NM_005050.4(ABCD4):c.543-14T>C rs79311122 0.00556
NM_005050.4(ABCD4):c.425+207G>T rs112064632 0.00551
NM_005050.4(ABCD4):c.1736G>A (p.Arg579Gln) rs143288344 0.00421
NM_005050.4(ABCD4):c.1023G>A (p.Thr341=) rs35522023 0.00378
NM_005050.4(ABCD4):c.669-51T>G rs45526333 0.00334
NM_005050.4(ABCD4):c.720-60G>A rs45447292 0.00244
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp) rs45568335 0.00163
NM_005050.4(ABCD4):c.751C>T (p.Arg251Cys) rs141868117 0.00150
NM_005050.4(ABCD4):c.1637-48G>A rs3742802 0.00148
NM_005050.4(ABCD4):c.1230G>A (p.Lys410=) rs145155300 0.00059
NM_005050.4(ABCD4):c.1507-18C>T rs368891249 0.00047
NM_005050.4(ABCD4):c.1042C>T (p.Arg348Trp) rs147795328 0.00041
NM_005050.4(ABCD4):c.1118+9C>T rs370581068 0.00041
NM_005050.4(ABCD4):c.141G>C (p.Leu47Phe) rs147446660 0.00038
NM_005050.4(ABCD4):c.752G>A (p.Arg251His) rs139315421 0.00034
NM_005050.4(ABCD4):c.1589A>T (p.Gln530Leu) rs142696207 0.00029
NM_005050.4(ABCD4):c.1083C>T (p.Cys361=) rs377583331 0.00027
NM_005050.4(ABCD4):c.669-11_669-8del rs373949463 0.00026
NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn) rs139901585 0.00022
NM_005050.4(ABCD4):c.867C>T (p.Ile289=) rs138775118 0.00013
NM_005050.4(ABCD4):c.555C>T (p.Leu185=) rs188108983 0.00011
NM_005050.4(ABCD4):c.1056G>A (p.Leu352=) rs542032495 0.00010
NM_005050.4(ABCD4):c.756G>A (p.Arg252=) rs149632647 0.00010
NM_005050.4(ABCD4):c.1752+5C>T rs370270229 0.00007
NM_005050.4(ABCD4):c.-22A>G rs754003784 0.00006
NM_005050.4(ABCD4):c.1518G>A (p.Val506=) rs372838114 0.00006
NM_005050.4(ABCD4):c.38+20A>G rs749876491 0.00006
NM_005050.4(ABCD4):c.1529A>G (p.Glu510Gly) rs752015330 0.00005
NM_005050.4(ABCD4):c.1688A>G (p.Tyr563Cys) rs145853977 0.00005
NM_005050.4(ABCD4):c.1327+8C>T rs199678602 0.00004
NM_005050.4(ABCD4):c.425+7G>A rs375608814 0.00003
NM_005050.4(ABCD4):c.1559+20G>A rs572419384 0.00002
NM_005050.4(ABCD4):c.1704G>A (p.Gln568=) rs141766346 0.00002
NM_005050.4(ABCD4):c.*5C>T rs1057523050 0.00001
NM_005050.4(ABCD4):c.1093G>T (p.Gly365Cys) rs201100662 0.00001
NM_005050.4(ABCD4):c.1577C>T (p.Pro526Leu) rs534596852 0.00001
NM_005050.4(ABCD4):c.1705C>T (p.Leu569=) rs1057521999 0.00001
NM_005050.4(ABCD4):c.1753-18G>A rs772567988 0.00001
NM_005050.4(ABCD4):c.1753-4G>A rs554458015 0.00001
NM_005050.4(ABCD4):c.388T>C (p.Tyr130His) rs1349388678 0.00001
NM_005050.4(ABCD4):c.542+1G>T rs769364566 0.00001
NM_005050.4(ABCD4):c.594C>T (p.Thr198=) rs202070697 0.00001
NM_005050.4(ABCD4):c.936+11C>G rs759765179 0.00001
NM_005050.4(ABCD4):c.9C>G (p.Val3=) rs72542410 0.00001
NM_005050.3(ABCD4):c.-29G>A rs1555408435
NM_005050.4(ABCD4):c.*57G>C rs1052012
NM_005050.4(ABCD4):c.1028+52C>A rs74063813
NM_005050.4(ABCD4):c.1043G>A (p.Arg348Gln) rs147100216
NM_005050.4(ABCD4):c.1049C>G (p.Thr350Arg) rs35073715
NM_005050.4(ABCD4):c.1118+196dup rs11410918
NM_005050.4(ABCD4):c.1119-185del rs35144250
NM_005050.4(ABCD4):c.1119-205_1119-203dup rs35144250
NM_005050.4(ABCD4):c.1119-205_1119-204dup rs35144250
NM_005050.4(ABCD4):c.1119-205dup rs35144250
NM_005050.4(ABCD4):c.1419+127G>A rs3213498
NM_005050.4(ABCD4):c.1419+191T>C rs3213499
NM_005050.4(ABCD4):c.1419+191T>G rs3213499
NM_005050.4(ABCD4):c.1419+58G>C rs111524952
NM_005050.4(ABCD4):c.1420-194A>G rs79567228
NM_005050.4(ABCD4):c.1420-81_1420-75dup rs572934501
NM_005050.4(ABCD4):c.1456+67_1456+68del rs147794426
NM_005050.4(ABCD4):c.1520C>A (p.Ala507Glu)
NM_005050.4(ABCD4):c.1636+174del rs140425539
NM_005050.4(ABCD4):c.1636+234CTTTT[3] rs796699851
NM_005050.4(ABCD4):c.1636+256_1636+258del rs67310859
NM_005050.4(ABCD4):c.1636+257_1636+258del rs67310859
NM_005050.4(ABCD4):c.1636+258del rs67310859
NM_005050.4(ABCD4):c.1636+273_1636+274del rs3837654
NM_005050.4(ABCD4):c.1678A>G (p.Ser560Gly) rs2139698542
NM_005050.4(ABCD4):c.285+171A>G rs2301346
NM_005050.4(ABCD4):c.354C>T (p.His118=) rs768838020
NM_005050.4(ABCD4):c.502C>A (p.Pro168Thr) rs1057523057
NM_005050.4(ABCD4):c.57A>G (p.Gln19=) rs574817590
NM_005050.4(ABCD4):c.669-113G>A rs148964775
NM_005050.4(ABCD4):c.669-173C>G
NM_005050.4(ABCD4):c.669-6G>T rs115029507
NM_005050.4(ABCD4):c.669-82C>G rs7148875
NM_005050.4(ABCD4):c.675G>C (p.Lys225Asn)
NM_005050.4(ABCD4):c.814+135G>A rs74063817
NM_005050.4(ABCD4):c.996G>A (p.Thr332=) rs765914441

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