ClinVar Miner

List of variants in gene ASS1 reported by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 103
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HGVS dbSNP gnomAD frequency
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.175-1233G>A rs1215988 0.32238
NM_000050.4(ASS1):c.-323G>T rs2071367 0.18565
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.174+21A>G rs73541961 0.05590
NM_054012.4(ASS1):c.597+8C>T rs77343702 0.04911
NM_054012.4(ASS1):c.175-1129A>G rs59227343 0.02410
NM_054012.4(ASS1):c.688+4T>C rs78432485 0.02036
NM_054012.4(ASS1):c.-5-1883C>T rs12004384 0.01076
NM_054012.4(ASS1):c.766G>A (p.Glu256Lys) rs74923032 0.00937
NM_054012.4(ASS1):c.364-6T>C rs116103138 0.00881
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.622A>G (p.Thr208Ala) rs62637575 0.00277
NM_054012.4(ASS1):c.1101G>A (p.Leu367=) rs139031154 0.00128
NM_054012.4(ASS1):c.363+16A>G rs191432165 0.00099
NM_054012.4(ASS1):c.1134C>T (p.Asn378=) rs140715869 0.00094
NM_054012.4(ASS1):c.411C>T (p.Pro137=) rs139250536 0.00034
NM_054012.4(ASS1):c.333C>T (p.Ala111=) rs141568959 0.00031
NM_054012.4(ASS1):c.1015G>A (p.Ala339Thr) rs145100866 0.00028
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641 0.00025
NM_054012.4(ASS1):c.240C>T (p.Ser80=) rs147910468 0.00023
NM_054012.4(ASS1):c.-4C>T rs138350285 0.00022
NM_054012.4(ASS1):c.710A>G (p.Asn237Ser) rs565520844 0.00021
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.174+4C>A rs368133957 0.00016
NM_054012.4(ASS1):c.1165A>G (p.Thr389Ala) rs145288815 0.00014
NM_054012.4(ASS1):c.351C>T (p.Gly117=) rs2228429 0.00014
NM_054012.4(ASS1):c.858A>T (p.Ala286=) rs201905628 0.00014
NM_054012.4(ASS1):c.241G>A (p.Ala81Thr) rs141640176 0.00013
NM_054012.4(ASS1):c.549G>A (p.Glu183=) rs747401210 0.00013
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.1056C>T (p.Ser352=) rs766889925 0.00008
NM_054012.4(ASS1):c.773C>T (p.Ala258Val) rs753078725 0.00008
NM_054012.4(ASS1):c.174+10G>A rs371597908 0.00007
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg) rs121908646 0.00007
NM_054012.4(ASS1):c.1047G>T (p.Val349=) rs376502913 0.00006
NM_054012.4(ASS1):c.295G>A (p.Ala99Thr) rs150466363 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.911G>A (p.Arg304Gln) rs771640767 0.00005
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp) rs121908640 0.00004
NM_054012.4(ASS1):c.142A>G (p.Arg48Gly) rs374695792 0.00004
NM_054012.4(ASS1):c.352G>A (p.Ala118Thr) rs775305020 0.00004
NM_054012.4(ASS1):c.469C>T (p.Arg157Cys) rs770585183 0.00004
NM_054012.4(ASS1):c.533C>T (p.Pro178Leu) rs768846877 0.00004
NM_054012.4(ASS1):c.796A>G (p.Ile266Val) rs377221825 0.00004
NM_054012.4(ASS1):c.892del (p.Glu298fs) rs770362721 0.00004
NM_054012.4(ASS1):c.151G>A (p.Ala51Thr) rs142350255 0.00003
NM_054012.4(ASS1):c.190G>A (p.Val64Ile) rs556297791 0.00003
NM_054012.4(ASS1):c.298C>T (p.Arg100Cys) rs370695114 0.00003
NM_054012.4(ASS1):c.571G>A (p.Glu191Lys) rs777828000 0.00003
NM_054012.4(ASS1):c.772G>A (p.Ala258Thr) rs765748014 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.294C>T (p.Ile98=) rs183370361 0.00002
NM_054012.4(ASS1):c.920G>A (p.Arg307His) rs571576756 0.00002
NM_054012.4(ASS1):c.1014C>T (p.Ile338=) rs749554993 0.00001
NM_054012.4(ASS1):c.1030C>T (p.Arg344Ter) rs786204537 0.00001
NM_054012.4(ASS1):c.1051G>A (p.Val351Met) rs773909247 0.00001
NM_054012.4(ASS1):c.1083C>T (p.Leu361=) rs78564724 0.00001
NM_054012.4(ASS1):c.175-1119G>A rs1488840592 0.00001
NM_054012.4(ASS1):c.247T>C (p.Tyr83His) rs753659761 0.00001
NM_054012.4(ASS1):c.256C>T (p.Arg86Cys) rs121908644 0.00001
NM_054012.4(ASS1):c.261C>T (p.Tyr87=) rs749648285 0.00001
NM_054012.4(ASS1):c.349G>A (p.Gly117Ser) rs770944877 0.00001
NM_054012.4(ASS1):c.370G>A (p.Asp124Asn) rs936192871 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.556A>G (p.Met186Val) rs1845851030 0.00001
NM_054012.4(ASS1):c.577G>A (p.Gly193Arg) rs1311437424 0.00001
NM_054012.4(ASS1):c.647C>A (p.Ala216Asp) rs1043964127 0.00001
NM_054012.4(ASS1):c.711C>T (p.Asn237=) rs779981831 0.00001
NM_054012.4(ASS1):c.712G>A (p.Val238Ile) rs368414392 0.00001
NM_054012.4(ASS1):c.771C>T (p.Val257=) rs547904731 0.00001
NM_054012.4(ASS1):c.793C>T (p.Arg265Cys) rs148918985 0.00001
NM_054012.4(ASS1):c.835C>T (p.Arg279Ter) rs121908645 0.00001
NM_054012.4(ASS1):c.910C>T (p.Arg304Trp) rs121908642 0.00001
NM_054012.4(ASS1):c.965A>G (p.Tyr322Cys) rs373473841 0.00001
NM_054012.4(ASS1):c.969C>T (p.Thr323=) rs756487535 0.00001
NM_054012.4(ASS1):c.970+4C>T rs1460424492 0.00001
NM_054012.4(ASS1):c.1085G>T (p.Gly362Val) rs121908647
NM_054012.4(ASS1):c.1166C>T (p.Thr389Ile) rs1474017319
NM_054012.4(ASS1):c.160C>G (p.Leu54Val) rs1564902078
NM_054012.4(ASS1):c.294C>A (p.Ile98=) rs183370361
NM_054012.4(ASS1):c.314T>G (p.Ile105Ser) rs1845505181
NM_054012.4(ASS1):c.323G>T (p.Arg108Leu) rs35269064
NM_054012.4(ASS1):c.408C>T (p.Ala136=) rs765880041
NM_054012.4(ASS1):c.421-2A>G rs751930594
NM_054012.4(ASS1):c.460_467del (p.Phe154fs) rs1004492719
NM_054012.4(ASS1):c.539G>T (p.Ser180Ile) rs121908638
NM_054012.4(ASS1):c.605C>A (p.Ala202Glu) rs376371866
NM_054012.4(ASS1):c.623C>G (p.Thr208Arg) rs776441071
NM_054012.4(ASS1):c.63C>A (p.Leu21=) rs774476997
NM_054012.4(ASS1):c.814C>T (p.Arg272Cys) rs762387914
NM_054012.4(ASS1):c.827T>C (p.Met276Thr) rs1365759588
NM_054012.4(ASS1):c.839-2A>T rs2118864015
NM_054012.4(ASS1):c.955G>A (p.Glu319Lys) rs1588503732
NM_054012.4(ASS1):c.991T>C (p.Cys331Arg) rs1055308437

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