ClinVar Miner

List of variants reported as pathogenic for Citrullinemia type I by Natera, Inc.

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ClinVar version:
Total variants: 22
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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.787G>A (p.Val263Met) rs192838388 0.00005
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp) rs121908640 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.892del (p.Glu298fs) rs770362721 0.00004
NM_054012.4(ASS1):c.571G>A (p.Glu191Lys) rs777828000 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.1030C>T (p.Arg344Ter) rs786204537 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.380G>A (p.Arg127Gln) rs201623252 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.1085G>T (p.Gly362Val) rs121908647
NM_054012.4(ASS1):c.421-2A>G rs751930594
NM_054012.4(ASS1):c.814C>T (p.Arg272Cys) rs762387914

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