ClinVar Miner

List of variants studied for argininosuccinic aciduria by Natera, Inc.

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_000048.4(ASL):c.1164C>T (p.His388=) rs75300185 0.01380
NM_000048.4(ASL):c.576G>A (p.Lys192=) rs115468878 0.00717
NM_000048.4(ASL):c.556C>A (p.Arg186=) rs111407265 0.00347
NM_000048.4(ASL):c.183C>T (p.Asp61=) rs73374672 0.00282
NM_000048.4(ASL):c.162C>T (p.Leu54=) rs140221164 0.00238
NM_000048.4(ASL):c.1029C>T (p.Leu343=) rs140532520 0.00083
NM_000048.4(ASL):c.392C>T (p.Thr131Met) rs143793815 0.00042
NM_000048.4(ASL):c.532G>A (p.Val178Met) rs28941473 0.00034
NM_000048.4(ASL):c.655+8G>A rs200203985 0.00019
NM_000048.4(ASL):c.857A>G (p.Gln286Arg) rs28941472 0.00015
NM_000048.4(ASL):c.354C>T (p.Val118=) rs116121482 0.00014
NM_000048.4(ASL):c.1056G>A (p.Thr352=) rs745476328 0.00013
NM_000048.4(ASL):c.1047C>G (p.Val349=) rs187877947 0.00011
NM_000048.4(ASL):c.1278C>T (p.Cys426=) rs140770112 0.00011
NM_000048.4(ASL):c.1270G>A (p.Val424Met) rs368264870 0.00009
NM_000048.4(ASL):c.337C>T (p.Arg113Trp) rs767543051 0.00008
NM_000048.4(ASL):c.446+1G>A rs142637046 0.00008
NM_000048.4(ASL):c.571C>T (p.Arg191Trp) rs143508372 0.00008
NM_000048.4(ASL):c.72C>T (p.Phe24=) rs760059034 0.00008
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys) rs28940286 0.00007
NM_000048.4(ASL):c.174C>T (p.Ala58=) rs376104424 0.00007
NM_000048.4(ASL):c.330A>G (p.Gly110=) rs147464765 0.00007
NM_000048.4(ASL):c.1045G>A (p.Val349Ile) rs372774556 0.00006
NM_000048.4(ASL):c.1366C>T (p.Arg456Trp) rs759396688 0.00006
NM_000048.4(ASL):c.544C>T (p.Arg182Ter) rs398123126 0.00005
NM_000048.4(ASL):c.75C>T (p.Asn25=) rs370260834 0.00005
NM_000048.4(ASL):c.1063-8G>A rs548397162 0.00004
NM_000048.4(ASL):c.578G>A (p.Arg193Gln) rs373697663 0.00004
NM_000048.4(ASL):c.649C>T (p.Arg217Ter) rs369879957 0.00004
NM_000048.4(ASL):c.1135C>T (p.Arg379Cys) rs28940287 0.00003
NM_000048.4(ASL):c.1242G>A (p.Gln414=) rs144716217 0.00003
NM_000048.4(ASL):c.1345G>A (p.Asp449Asn) rs781031440 0.00003
NM_000048.4(ASL):c.577C>T (p.Arg193Trp) rs1428029508 0.00003
NM_000048.4(ASL):c.924C>T (p.Ala308=) rs747831550 0.00003
NM_000048.4(ASL):c.938C>A (p.Thr313Asn) rs1410031530 0.00003
NM_000048.4(ASL):c.1262C>T (p.Ser421Leu) rs148669165 0.00002
NM_000048.4(ASL):c.243G>C (p.Leu81=) rs774204716 0.00002
NM_000048.4(ASL):c.326C>T (p.Thr109Met) rs146123574 0.00002
NM_000048.4(ASL):c.436C>T (p.Arg146Trp) rs199938613 0.00002
NM_000048.4(ASL):c.447-1G>A rs778254333 0.00002
NM_000048.4(ASL):c.524+2T>G rs869312976 0.00002
NM_000048.4(ASL):c.557G>A (p.Arg186Gln) rs752397242 0.00002
NM_000048.4(ASL):c.62T>C (p.Met21Thr) rs774392615 0.00002
NM_000048.4(ASL):c.637C>T (p.Arg213Ter) rs761651320 0.00002
NM_000048.4(ASL):c.77C>T (p.Ala26Val) rs761046404 0.00002
NM_000048.4(ASL):c.919-4G>A rs756230523 0.00002
NM_000048.4(ASL):c.1020T>G (p.Ser340Arg) rs771476376 0.00001
NM_000048.4(ASL):c.1136G>A (p.Arg379His) rs200853731 0.00001
NM_000048.4(ASL):c.1154G>A (p.Arg385His) rs746120802 0.00001
NM_000048.4(ASL):c.1204G>T (p.Gly402Trp) rs727503812 0.00001
NM_000048.4(ASL):c.1255_1256del (p.Leu419fs) rs757109353 0.00001
NM_000048.4(ASL):c.1344C>T (p.Val448=) rs144011206 0.00001
NM_000048.4(ASL):c.246C>T (p.Asn82=) rs1281983139 0.00001
NM_000048.4(ASL):c.376C>T (p.Arg126Trp) rs201962738 0.00001
NM_000048.4(ASL):c.377G>A (p.Arg126Gln) rs777235530 0.00001
NM_000048.4(ASL):c.467C>T (p.Pro156Leu) rs769017508 0.00001
NM_000048.4(ASL):c.507G>C (p.Trp169Cys) rs759952363 0.00001
NM_000048.4(ASL):c.545G>A (p.Arg182Gln) rs751590073 0.00001
NM_000048.4(ASL):c.566A>G (p.Glu189Gly) rs756363516 0.00001
NM_000048.4(ASL):c.584A>G (p.Asn195Ser) rs1409298819 0.00001
NM_000048.4(ASL):c.707G>A (p.Arg236Gln) rs764602422 0.00001
NM_000048.4(ASL):c.708G>C (p.Arg236=) rs1206710088 0.00001
NM_000048.4(ASL):c.722A>C (p.Glu241Ala) rs924321091 0.00001
NM_000048.4(ASL):c.76G>A (p.Ala26Thr) rs775839623 0.00001
NM_000048.4(ASL):c.976C>A (p.Gln326Lys) rs398123129 0.00001
NM_000048.4(ASL):c.1080G>C (p.Met360Ile) rs1786857910
NM_000048.4(ASL):c.175G>A (p.Glu59Lys) rs869312985
NM_000048.4(ASL):c.399G>C (p.Ser133=) rs141584041
NM_000048.4(ASL):c.402C>A (p.Gly134=) rs1308519514
NM_000048.4(ASL):c.437G>A (p.Arg146Gln) rs796051931
NM_000048.4(ASL):c.503G>A (p.Arg168His) rs727503811
NM_000048.4(ASL):c.551_552del (p.Asp183_Ser184insTer) rs1786675239
NM_000048.4(ASL):c.556C>T (p.Arg186Trp) rs111407265
NM_000048.4(ASL):c.571C>G (p.Arg191Gly) rs143508372
NM_000048.4(ASL):c.675C>G (p.Ile225Met) rs1554327265
NM_000048.4(ASL):c.706C>T (p.Arg236Trp) rs761268464
NM_000048.4(ASL):c.741G>A (p.Ser247=) rs371927473
NM_000048.4(ASL):c.928C>T (p.Leu310Phe) rs1168345442
NM_000048.4(ASL):c.973_976del (p.Leu325fs) rs763407938
NM_000048.4(ASL):c.99C>G (p.His33Gln) rs142077823

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