ClinVar Miner

List of variants in gene ASS1 reported as likely pathogenic by Baylor Genetics

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Total variants: 43
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HGVS dbSNP gnomAD frequency
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.773C>T (p.Ala258Val) rs753078725 0.00008
NM_054012.4(ASS1):c.911G>A (p.Arg304Gln) rs771640767 0.00005
NM_054012.4(ASS1):c.929A>G (p.Lys310Arg) rs199751308 0.00002
NM_054012.4(ASS1):c.175-1119G>A rs1488840592 0.00001
NM_054012.4(ASS1):c.53C>T (p.Ser18Leu) rs121908643 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.793C>T (p.Arg265Cys) rs148918985 0.00001
NM_054012.4(ASS1):c.851C>T (p.Thr284Ile) rs886039853 0.00001
NM_054012.4(ASS1):c.892G>A (p.Glu298Lys) rs1372482894 0.00001
NM_054012.4(ASS1):c.1047del (p.Gln350fs)
NM_054012.4(ASS1):c.1075del (p.Tyr359fs) rs1588508532
NM_054012.4(ASS1):c.1193+1G>T
NM_054012.4(ASS1):c.119A>T (p.Gln40Leu)
NM_054012.4(ASS1):c.174+1G>C
NM_054012.4(ASS1):c.246del (p.Tyr83fs)
NM_054012.4(ASS1):c.262del (p.Leu88fs) rs1588475891
NM_054012.4(ASS1):c.269G>A (p.Gly90Asp)
NM_054012.4(ASS1):c.285del (p.Arg95fs)
NM_054012.4(ASS1):c.350G>A (p.Gly117Asp) rs745404241
NM_054012.4(ASS1):c.356C>T (p.Thr119Ile) rs1845507027
NM_054012.4(ASS1):c.364-2A>T rs774231051
NM_054012.4(ASS1):c.391_398del (p.Ser131fs)
NM_054012.4(ASS1):c.401C>A (p.Ser134Ter)
NM_054012.4(ASS1):c.412dup (p.Gln138fs) rs1554983717
NM_054012.4(ASS1):c.421-2A>C rs751930594
NM_054012.4(ASS1):c.431C>G (p.Pro144Arg)
NM_054012.4(ASS1):c.539G>T (p.Ser180Ile) rs121908638
NM_054012.4(ASS1):c.566+1G>T rs1057520659
NM_054012.4(ASS1):c.571G>C (p.Glu191Gln)
NM_054012.4(ASS1):c.689G>C (p.Gly230Ala) rs1085307056
NM_054012.4(ASS1):c.69G>A (p.Trp23Ter)
NM_054012.4(ASS1):c.759C>A (p.Tyr253Ter) rs1588495489
NM_054012.4(ASS1):c.773+4A>C
NM_054012.4(ASS1):c.774-2del
NM_054012.4(ASS1):c.812dup (p.Asn271fs) rs759483921
NM_054012.4(ASS1):c.815G>T (p.Arg272Leu)
NM_054012.4(ASS1):c.839-1G>A
NM_054012.4(ASS1):c.907del (p.Asp303fs)
NM_054012.4(ASS1):c.971-1G>A rs1554725033
NM_054012.4(ASS1):c.992_997delinsA (p.Cys331fs)

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