ClinVar Miner

List of variants in gene ASS1 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_054012.4(ASS1):c.688+4T>C rs78432485 0.02036
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.299G>A (p.Arg100His) rs138279074 0.00019
NM_054012.4(ASS1):c.19G>A (p.Val7Met) rs149938546 0.00009
NM_054012.4(ASS1):c.245T>C (p.Leu82Pro) rs559043503 0.00008
NM_054012.4(ASS1):c.805G>A (p.Val269Met) rs370595480 0.00007
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.892del (p.Glu298fs) rs770362721 0.00004
NM_054012.4(ASS1):c.1069C>T (p.Gln357Ter) rs756859126 0.00003
NM_054012.4(ASS1):c.298C>T (p.Arg100Cys) rs370695114 0.00003
NM_054012.4(ASS1):c.570C>T (p.Tyr190=) rs758481857 0.00003
NM_054012.4(ASS1):c.571G>A (p.Glu191Lys) rs777828000 0.00003
NM_054012.4(ASS1):c.786C>T (p.Gly262=) rs536799104 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.929A>G (p.Lys310Arg) rs199751308 0.00002
NM_054012.4(ASS1):c.-5-10C>G rs375136377 0.00001
NM_054012.4(ASS1):c.1030C>T (p.Arg344Ter) rs786204537 0.00001
NM_054012.4(ASS1):c.1173C>A (p.Phe391Leu) rs1554725724 0.00001
NM_054012.4(ASS1):c.256C>T (p.Arg86Cys) rs121908644 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.40G>A (p.Gly14Ser) rs121908636 0.00001
NM_054012.4(ASS1):c.647C>A (p.Ala216Asp) rs1043964127 0.00001
NM_054012.4(ASS1):c.689-2A>C rs374586230 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.970+5G>A rs372128852 0.00001
NM_054012.4(ASS1):c.1022C>T (p.Ser341Phe)
NM_054012.4(ASS1):c.1087C>G (p.Arg363Gly) rs121908640
NM_054012.4(ASS1):c.1128-6_1188dup rs1554725677
NM_054012.4(ASS1):c.1165A>C (p.Thr389Pro)
NM_054012.4(ASS1):c.1166C>T (p.Thr389Ile) rs1474017319
NM_054012.4(ASS1):c.1194-19_1197dup
NM_054012.4(ASS1):c.140C>T (p.Ala47Val) rs1301161301
NM_054012.4(ASS1):c.319del (p.Gln107fs) rs1564903969
NM_054012.4(ASS1):c.323G>T (p.Arg108Leu) rs35269064
NM_054012.4(ASS1):c.420+1G>T rs1554983719
NM_054012.4(ASS1):c.421-2A>G rs751930594
NM_054012.4(ASS1):c.450_451del (p.Phe150fs) rs786204648
NM_054012.4(ASS1):c.460_467del (p.Phe154fs) rs1004492719
NM_054012.4(ASS1):c.479T>C (p.Leu160Pro) rs969835605
NM_054012.4(ASS1):c.539G>A (p.Ser180Asn) rs121908638
NM_054012.4(ASS1):c.725C>T (p.Thr242Ile)
NM_054012.4(ASS1):c.773+6T>G
NM_054012.4(ASS1):c.794G>A (p.Arg265His) rs398123131
NM_054012.4(ASS1):c.815G>A (p.Arg272His) rs768215008
NM_054012.4(ASS1):c.904A>G (p.Met302Val) rs1846391609
NM_054012.4(ASS1):c.968C>T (p.Thr323Ile)
NM_054012.4(ASS1):c.971G>T (p.Gly324Val) rs1554725034
NM_054012.4(ASS1):c.991T>C (p.Cys331Arg) rs1055308437

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