ClinVar Miner

List of variants in gene ASS1 studied for not provided

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Gene type:
ClinVar version:
Total variants: 136
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HGVS dbSNP gnomAD frequency
NM_054012.4(ASS1):c.597+81A>G rs641510 0.91777
NM_054012.4(ASS1):c.838+38A>G rs1215940 0.89625
NM_054012.4(ASS1):c.597+18A>G rs652313 0.77461
NM_054012.4(ASS1):c.839-88A>T rs543048 0.60888
NM_054012.4(ASS1):c.566+88C>T rs493389 0.59097
NM_054012.4(ASS1):c.597+178G>A rs486889 0.57370
NM_054012.4(ASS1):c.105+115G>A rs1615006 0.56622
NM_054012.4(ASS1):c.-6+67A>C rs6597680 0.52495
NM_054012.4(ASS1):c.838+144C>T rs2043190 0.41770
NM_054012.4(ASS1):c.175-999T>C rs1215987 0.33615
NM_054012.4(ASS1):c.838+66C>A rs2043189 0.32666
NM_054012.4(ASS1):c.175-1233G>A rs1215988 0.32238
NM_054012.4(ASS1):c.363+195C>T rs1215986 0.32152
NM_054012.4(ASS1):c.970+243C>T rs12375699 0.31346
NM_054012.4(ASS1):c.773+184G>T rs540140 0.22343
NM_000050.4(ASS1):c.-323G>T rs2071367 0.18565
NM_054012.4(ASS1):c.1194-210A>G rs2282219 0.13704
NM_054012.4(ASS1):c.501C>T (p.His167=) rs10901072 0.12154
NM_054012.4(ASS1):c.876T>C (p.His292=) rs1057484 0.10667
NM_054012.4(ASS1):c.839-302G>A rs7036163 0.10022
NM_054012.4(ASS1):c.688+206G>A rs58283294 0.09996
NM_054012.4(ASS1):c.174+21A>G rs73541961 0.05590
NM_054012.4(ASS1):c.839-77T>G rs45599031 0.04953
NM_054012.4(ASS1):c.597+8C>T rs77343702 0.04911
NM_054012.4(ASS1):c.496-36C>T rs12343715 0.04390
NM_054012.4(ASS1):c.105+74G>C rs10122141 0.03289
NM_054012.4(ASS1):c.175-1129A>G rs59227343 0.02410
NM_054012.4(ASS1):c.106-284G>A rs75314403 0.02083
NM_054012.4(ASS1):c.106-146C>A rs80350028 0.02081
NM_054012.4(ASS1):c.688+4T>C rs78432485 0.02036
NM_054012.4(ASS1):c.970+69C>T rs78879495 0.01405
NM_054012.4(ASS1):c.838+92C>T rs116522126 0.01256
NM_054012.4(ASS1):c.-6+44G>C rs151254686 0.01252
NM_054012.4(ASS1):c.970+208C>A rs116301216 0.01213
NM_054012.4(ASS1):c.105+290C>T rs149558736 0.01085
NM_054012.4(ASS1):c.766G>A (p.Glu256Lys) rs74923032 0.00937
NM_054012.4(ASS1):c.105+246C>T rs115788113 0.00743
NM_054012.4(ASS1):c.675C>T (p.Ile225=) rs58233547 0.00735
NM_054012.4(ASS1):c.106-10T>G rs73541957 0.00593
NM_054012.4(ASS1):c.-5-93C>T rs75950322 0.00538
NM_054012.4(ASS1):c.971-144C>T rs114867341 0.00473
NM_054012.4(ASS1):c.-5-1904G>A rs184403245 0.00399
NM_054012.4(ASS1):c.566+172A>G rs149311811 0.00363
NM_054012.4(ASS1):c.364-136C>T rs58429097 0.00354
NM_054012.4(ASS1):c.-5-41C>T rs73541954 0.00350
NM_054012.4(ASS1):c.838+118C>T rs60444687 0.00292
NM_054012.4(ASS1):c.622A>G (p.Thr208Ala) rs62637575 0.00277
NM_054012.4(ASS1):c.567-22G>C rs147147298 0.00255
NM_054012.4(ASS1):c.839-88del rs202135322 0.00202
NM_054012.4(ASS1):c.421-28C>T rs76169404 0.00175
NM_054012.4(ASS1):c.1101G>A (p.Leu367=) rs139031154 0.00128
NM_054012.4(ASS1):c.420+13T>G rs201883474 0.00099
NM_054012.4(ASS1):c.1134C>T (p.Asn378=) rs140715869 0.00094
NM_054012.4(ASS1):c.99C>T (p.Ala33=) rs147842617 0.00081
NM_054012.4(ASS1):c.322C>T (p.Arg108Trp) rs143405567 0.00035
NM_054012.4(ASS1):c.333C>T (p.Ala111=) rs141568959 0.00031
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641 0.00025
NM_054012.4(ASS1):c.-4C>T rs138350285 0.00022
NM_054012.4(ASS1):c.765C>T (p.Asn255=) rs375579096 0.00020
NM_054012.4(ASS1):c.299G>A (p.Arg100His) rs138279074 0.00019
NM_054012.4(ASS1):c.489C>T (p.Tyr163=) rs377319610 0.00012
NM_054012.4(ASS1):c.1003C>T (p.Arg335Cys) rs373514077 0.00009
NM_054012.4(ASS1):c.19G>A (p.Val7Met) rs149938546 0.00009
NM_054012.4(ASS1):c.919C>T (p.Arg307Cys) rs183276875 0.00009
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg) rs121908646 0.00007
NM_054012.4(ASS1):c.805G>A (p.Val269Met) rs370595480 0.00007
NM_054012.4(ASS1):c.1211G>A (p.Arg404His) rs752612525 0.00006
NM_054012.4(ASS1):c.458G>A (p.Arg153Gln) rs373239430 0.00006
NM_054012.4(ASS1):c.470G>A (p.Arg157His) rs121908637 0.00006
NM_054012.4(ASS1):c.787G>A (p.Val263Met) rs192838388 0.00005
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp) rs121908640 0.00004
NM_054012.4(ASS1):c.421-8A>C rs764424984 0.00004
NM_054012.4(ASS1):c.533C>T (p.Pro178Leu) rs768846877 0.00004
NM_054012.4(ASS1):c.847G>A (p.Glu283Lys) rs765338121 0.00004
NM_054012.4(ASS1):c.892del (p.Glu298fs) rs770362721 0.00004
NM_054012.4(ASS1):c.1069C>T (p.Gln357Ter) rs756859126 0.00003
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser) rs121908639 0.00003
NM_054012.4(ASS1):c.1194-1G>C rs727503814 0.00002
NM_054012.4(ASS1):c.567-4G>A rs754758285 0.00002
NM_054012.4(ASS1):c.836G>A (p.Arg279Gln) rs371265106 0.00002
NM_054012.4(ASS1):c.920G>A (p.Arg307His) rs571576756 0.00002
NM_054012.4(ASS1):c.929A>G (p.Lys310Arg) rs199751308 0.00002
NM_054012.4(ASS1):c.1088G>A (p.Arg363Gln) rs771937610 0.00001
NM_054012.4(ASS1):c.1173C>A (p.Phe391Leu) rs1554725724 0.00001
NM_054012.4(ASS1):c.206T>C (p.Val69Ala) rs771594651 0.00001
NM_054012.4(ASS1):c.256C>T (p.Arg86Cys) rs121908644 0.00001
NM_054012.4(ASS1):c.257G>A (p.Arg86His) rs575001023 0.00001
NM_054012.4(ASS1):c.380G>A (p.Arg127Gln) rs201623252 0.00001
NM_054012.4(ASS1):c.40G>A (p.Gly14Ser) rs121908636 0.00001
NM_054012.4(ASS1):c.647C>A (p.Ala216Asp) rs1043964127 0.00001
NM_054012.4(ASS1):c.793C>T (p.Arg265Cys) rs148918985 0.00001
NM_054012.4(ASS1):c.808G>C (p.Glu270Gln) rs775163147 0.00001
NM_054012.4(ASS1):c.893A>G (p.Glu298Gly) rs372061654 0.00001
NM_054012.4(ASS1):c.910C>T (p.Arg304Trp) rs121908642 0.00001
NM_054012.4(ASS1):c.970+5G>A rs372128852 0.00001
NC_000009.12:g.130501279GT[16] rs55743080
NC_000009.12:g.130501279GT[18] rs55743080
NC_000009.12:g.130501279GT[19] rs55743080
NC_000009.12:g.130501279GT[20] rs55743080
NC_000009.12:g.130501279GT[21] rs55743080
NC_000009.12:g.130501279GT[22] rs55743080
NM_054012.4(ASS1):c.-5-172T>C rs1760275
NM_054012.4(ASS1):c.1064del (p.Lys355fs) rs886043088
NM_054012.4(ASS1):c.1085G>T (p.Gly362Val) rs121908647
NM_054012.4(ASS1):c.115G>C (p.Gly39Arg) rs2131869276
NM_054012.4(ASS1):c.1196T>G (p.Leu399Arg) rs758372973
NM_054012.4(ASS1):c.175-1G>T rs1554982809
NM_054012.4(ASS1):c.175-226del rs5900899
NM_054012.4(ASS1):c.262C>A (p.Leu88Ile) rs895822620
NM_054012.4(ASS1):c.294C>A (p.Ile98=) rs183370361
NM_054012.4(ASS1):c.323G>T (p.Arg108Leu) rs35269064
NM_054012.4(ASS1):c.355A>C (p.Thr119Pro) rs794727696
NM_054012.4(ASS1):c.421-2A>G rs751930594
NM_054012.4(ASS1):c.495+84A>C rs11243414
NM_054012.4(ASS1):c.496-2A>G rs398123130
NM_054012.4(ASS1):c.496-50C>G rs150202505
NM_054012.4(ASS1):c.510C>A (p.Pro170=)
NM_054012.4(ASS1):c.515C>G (p.Pro172Arg) rs372078387
NM_054012.4(ASS1):c.539G>A (p.Ser180Asn) rs121908638
NM_054012.4(ASS1):c.539G>T (p.Ser180Ile) rs121908638
NM_054012.4(ASS1):c.566+18C>G rs200036163
NM_054012.4(ASS1):c.566+1G>T rs1057520659
NM_054012.4(ASS1):c.584T>C (p.Leu195Pro) rs796051936
NM_054012.4(ASS1):c.596A>G (p.Lys199Arg)
NM_054012.4(ASS1):c.597+167C>A rs28633982
NM_054012.4(ASS1):c.597+206C>T rs184410370
NM_054012.4(ASS1):c.605C>A (p.Ala202Glu) rs376371866
NM_054012.4(ASS1):c.773+23G>T rs146390729
NM_054012.4(ASS1):c.774-28G>T rs151042066
NM_054012.4(ASS1):c.794G>A (p.Arg265His) rs398123131
NM_054012.4(ASS1):c.838+129C>G rs1215970
NM_054012.4(ASS1):c.880C>T (p.His294Tyr)
NM_054012.4(ASS1):c.914A>T (p.Glu305Val) rs398123132
NM_054012.4(ASS1):c.957G>A (p.Glu319=) rs1588503739
NM_054012.4(ASS1):c.961G>A (p.Val321Met) rs727503813
NM_054012.4(ASS1):c.970+265G>T rs56186944

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