ClinVar Miner

List of variants studied for citrullinemia by GeneReviews

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641 0.00027
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg) rs121908646 0.00007
NM_014251.3(SLC25A13):c.1177+1G>A rs80338722 0.00005
NM_014251.3(SLC25A13):c.1813C>T (p.Arg605Ter) rs80338729 0.00004
NM_054012.4(ASS1):c.787G>A (p.Val263Met) rs192838388 0.00004
NM_014251.3(SLC25A13):c.615+5G>A rs80338717 0.00003
NM_054012.4(ASS1):c.910C>T (p.Arg304Trp) rs121908642 0.00002
NM_014251.3(SLC25A13):c.1078C>T (p.Arg360Ter) rs80338721 0.00001
NM_014251.3(SLC25A13):c.1311+1G>A rs80338723 0.00001
NM_014251.3(SLC25A13):c.1638_1660dup (p.Ala554fs) rs80338725 0.00001
NM_014251.3(SLC25A13):c.1799dup (p.Tyr600Ter) rs80338726 0.00001
NM_014251.3(SLC25A13):c.1801G>A (p.Glu601Lys) rs80338727 0.00001
NM_014251.3(SLC25A13):c.550C>T (p.Arg184Ter) rs80338716 0.00001
NM_054012.4(ASS1):c.257G>A (p.Arg86His) rs575001023 0.00001
NM_054012.4(ASS1):c.421-2A>G rs751930594 0.00001
NM_054012.4(ASS1):c.773+49C>T rs763389916 0.00001
NM_054012.4(ASS1):c.794G>A (p.Arg265His) rs398123131 0.00001
NM_054012.4(ASS1):c.851C>T (p.Thr284Ile) rs886039853 0.00001
NM_054012.4(ASS1):c.970+5G>A rs372128852 0.00001
NM_000050.4(ASS1):c.[323G>T];[970+5G>A]
NM_014251.3(SLC25A13):c.1592G>A (p.Gly531Asp) rs80338724
NM_014251.3(SLC25A13):c.15G>A (p.Lys5=) rs80338715
NM_014251.3(SLC25A13):c.1801G>T (p.Glu601Ter) rs80338727
NM_014251.3(SLC25A13):c.615+1G>C rs80338718
NM_014251.3(SLC25A13):c.674C>A (p.Ser225Ter) rs80338719
NM_014251.3(SLC25A13):c.852_855del (p.Met285fs) rs80338720
NM_054012.4(ASS1):c.1085G>T (p.Gly362Val) rs121908647

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