ClinVar Miner

List of variants in gene combination ASNS, CZ1P-ASNS 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_001673.5(ASNS):c.629T>A (p.Val210Glu) rs1049674 0.81709
NM_001673.5(ASNS):c.-23-44T>C rs6465630 0.38373
NM_001673.5(ASNS):c.904-85A>G rs2074891 0.37484
NM_001673.5(ASNS):c.775+195A>G rs7792744 0.37320
NM_001673.5(ASNS):c.488-23A>G rs7797354 0.36522
NM_001673.5(ASNS):c.1137+187T>A rs4568556 0.21131
NM_001673.5(ASNS):c.1477-32G>A rs10486011 0.16136
NM_001673.5(ASNS):c.1238+142G>C rs17279084 0.15016
NM_001673.5(ASNS):c.776-13C>T rs41278830 0.12692
NM_001673.5(ASNS):c.-23-149G>A rs11771498 0.12405
NM_001673.5(ASNS):c.674-83T>C rs11773753 0.11189
NM_001673.5(ASNS):c.488-80T>C rs41278833 0.11089
NM_001673.5(ASNS):c.487+134T>A rs2302088 0.10410
NM_001673.5(ASNS):c.487+231T>C rs4727377 0.07403
NM_001673.5(ASNS):c.1476+165C>T rs6959868 0.04878
NM_001673.5(ASNS):c.1209C>G (p.Leu403=) rs1049677 0.04659
NM_001673.5(ASNS):c.*80A>C rs115270247 0.02915
NM_001673.5(ASNS):c.1238+52A>G rs76174078 0.02521
NM_001673.5(ASNS):c.1238+289A>G rs77387350 0.02520
NM_001673.5(ASNS):c.487+195T>C rs79201528 0.01285
NM_001673.5(ASNS):c.903+149G>A rs75926107 0.01272
NM_001673.5(ASNS):c.829G>A (p.Ala277Thr) rs2070159 0.01014
NM_001673.5(ASNS):c.1238+220G>A rs73396234 0.00957
NM_001673.5(ASNS):c.18G>A (p.Ala6=) rs76996735 0.00932
NM_001673.5(ASNS):c.904-326G>A rs141091262 0.00698
NM_001673.5(ASNS):c.488-143A>T rs185368375 0.00624
NM_001673.5(ASNS):c.1476+251A>G rs144971139 0.00505
NM_001673.5(ASNS):c.1030+321A>G rs150347488 0.00485
NM_001673.5(ASNS):c.488-309G>C rs140017955 0.00484
NM_001673.5(ASNS):c.1030+199G>A rs114895151 0.00390
NM_001673.5(ASNS):c.1138-321C>T rs113420991 0.00389
NM_001673.5(ASNS):c.-23-297G>A rs141801556 0.00309
NM_001673.5(ASNS):c.488-128T>C rs541925541 0.00301
NM_001673.5(ASNS):c.144C>T (p.His48=) rs11554431 0.00262
NM_001673.5(ASNS):c.1137+219A>G rs948260071 0.00193
NM_001673.5(ASNS):c.1587G>A (p.Arg529=) rs140975053 0.00187
NM_001673.5(ASNS):c.1364C>T (p.Ser455Phe) rs61733327 0.00106
NM_001673.5(ASNS):c.1164G>A (p.Glu388=) rs200290689 0.00059
NM_001673.5(ASNS):c.250-10G>A rs202126429 0.00016
NM_001673.5(ASNS):c.868A>G (p.Met290Val) rs146656175 0.00015
NM_001673.5(ASNS):c.1175G>A (p.Arg392Lys) rs199817844 0.00009
NM_001673.5(ASNS):c.512C>T (p.Ala171Val) rs138299423 0.00008
NM_001673.5(ASNS):c.1464C>T (p.Tyr488=) rs768064875 0.00007
NM_001673.5(ASNS):c.288G>A (p.Val96=) rs554805942 0.00007
NM_001673.5(ASNS):c.1058G>A (p.Arg353Gln) rs377342766 0.00004
NM_001673.5(ASNS):c.1211G>A (p.Arg404His) rs774808316 0.00004
NM_001673.5(ASNS):c.1556G>A (p.Arg519His) rs568570377 0.00004
NM_001673.5(ASNS):c.1593C>A (p.Asp531Glu) rs201432154 0.00004
NM_001673.5(ASNS):c.674-25G>A rs370464134 0.00004
NM_001673.5(ASNS):c.113A>G (p.Asn38Ser) rs571231860 0.00003
NM_001673.5(ASNS):c.1304A>C (p.Glu435Ala) rs777272935 0.00003
NM_001673.5(ASNS):c.146G>A (p.Arg49Gln) rs769236847 0.00003
NM_001673.5(ASNS):c.478del (p.Glu160fs) rs797045307 0.00003
NM_001673.5(ASNS):c.528A>C (p.Lys176Asn) rs754531044 0.00003
NM_001673.5(ASNS):c.1159G>A (p.Glu387Lys) rs761319175 0.00002
NM_001673.5(ASNS):c.1113G>A (p.Thr371=) rs146517491 0.00001
NM_001673.5(ASNS):c.1213G>A (p.Ala405Thr) rs749406391 0.00001
NM_001673.5(ASNS):c.1279T>C (p.Ser427Pro) rs1057518341 0.00001
NM_001673.5(ASNS):c.1353G>A (p.Thr451=) rs145582437 0.00001
NM_001673.5(ASNS):c.1439C>T (p.Ser480Phe) rs754043007 0.00001
NM_001673.5(ASNS):c.1614G>A (p.Met538Ile) rs767700335 0.00001
NM_001673.5(ASNS):c.1616C>T (p.Pro539Leu) rs1182799813 0.00001
NM_001673.5(ASNS):c.187C>T (p.Arg63Ter) rs373645939 0.00001
NM_001673.5(ASNS):c.551A>G (p.His184Arg) rs763504278 0.00001
NM_001673.5(ASNS):c.614A>C (p.His205Pro) rs1252577998 0.00001
NM_001673.5(ASNS):c.622C>T (p.Arg208Trp) rs1265117805 0.00001
NM_001673.5(ASNS):c.758T>G (p.Ile253Ser) rs761044095 0.00001
NM_001673.5(ASNS):c.908C>A (p.Ala303Glu) rs1167308898 0.00001
NM_001673.5(ASNS):c.91G>T (p.Ala31Ser) rs1461068861 0.00001
NM_001673.5(ASNS):c.1018C>T (p.Arg340Cys) rs1399973379
NM_001673.5(ASNS):c.1115A>G (p.Gln372Arg)
NM_001673.5(ASNS):c.1132C>T (p.His378Tyr) rs1378661890
NM_001673.5(ASNS):c.1138-296del rs71532083
NM_001673.5(ASNS):c.1138-313dup rs71532083
NM_001673.5(ASNS):c.1220G>A (p.Arg407Gln) rs748291290
NM_001673.5(ASNS):c.1424C>A (p.Thr475Asn) rs1085307956
NM_001673.5(ASNS):c.1424C>T (p.Thr475Ile)
NM_001673.5(ASNS):c.1450A>G (p.Ile484Val)
NM_001673.5(ASNS):c.1477-146T>C rs17344752
NM_001673.5(ASNS):c.1501G>A (p.Ala501Thr)
NM_001673.5(ASNS):c.1528_1530del (p.Pro510del)
NM_001673.5(ASNS):c.1609T>G (p.Trp537Gly) rs2115581844
NM_001673.5(ASNS):c.1628A>G (p.Asn543Ser) rs751735389
NM_001673.5(ASNS):c.17C>A (p.Ala6Glu) rs398122975
NM_001673.5(ASNS):c.17C>T (p.Ala6Val) rs398122975
NM_001673.5(ASNS):c.198_202del (p.Lys66fs) rs2484697837
NM_001673.5(ASNS):c.238_240dup (p.Asn80dup) rs1031149038
NM_001673.5(ASNS):c.239A>G (p.Asn80Ser) rs1792113146
NM_001673.5(ASNS):c.308A>C (p.His103Pro) rs2115710137
NM_001673.5(ASNS):c.46G>T (p.Val16Phe) rs2115755157
NM_001673.5(ASNS):c.487+3A>T rs2115707803
NM_001673.5(ASNS):c.511G>A (p.Ala171Thr) rs149193118
NM_001673.5(ASNS):c.596T>C (p.Val199Ala) rs2115659757
NM_001673.5(ASNS):c.632C>A (p.Pro211His) rs2115659026
NM_001673.5(ASNS):c.666_667del (p.Phe223fs) rs750420071
NM_001673.5(ASNS):c.703C>T (p.Leu235Phe) rs2115655166
NM_001673.5(ASNS):c.712C>A (p.Leu238Ile) rs1791584426
NM_001673.5(ASNS):c.753_755del (p.Arg252del) rs752897486
NM_001673.5(ASNS):c.775+13dup rs36021744
NM_001673.5(ASNS):c.775+18_775+19dup rs36021744
NM_001673.5(ASNS):c.903+115T>A rs76580431
NM_001673.5(ASNS):c.903+244T>C rs2237289

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