ClinVar Miner

List of variants in gene ASS1 reported by OMIM

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641 0.00025
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg) rs121908646 0.00007
NM_054012.4(ASS1):c.470G>A (p.Arg157His) rs121908637 0.00006
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp) rs121908640 0.00004
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.256C>T (p.Arg86Cys) rs121908644 0.00001
NM_054012.4(ASS1):c.40G>A (p.Gly14Ser) rs121908636 0.00001
NM_054012.4(ASS1):c.53C>T (p.Ser18Leu) rs121908643 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.928A>C (p.Lys310Gln) rs121908648 0.00001
NM_054012.4(ASS1):c.970+5G>A rs372128852 0.00001
NG_011542.1:g.(18884_24404)_(24462_27018)del
NM_000050.4:c.(174+1_175-1)_(363+1_364-1)del
NM_054012.4(ASS1):c.1085G>T (p.Gly362Val) rs121908647
NM_054012.4(ASS1):c.323G>T (p.Arg108Leu) rs35269064
NM_054012.4(ASS1):c.421-2A>G rs751930594
NM_054012.4(ASS1):c.539G>A (p.Ser180Asn) rs121908638

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