ClinVar Miner

List of variants in gene SLC25A13 reported as pathogenic for citrullinemia, type II, adult-onset

Included ClinVar conditions (2):
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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_014251.3(SLC25A13):c.848+3A>C rs369402461 0.00009
NM_014251.3(SLC25A13):c.1813C>T (p.Arg605Ter) rs80338729 0.00006
NM_014251.3(SLC25A13):c.1231-1G>A rs781452100 0.00004
NM_014251.3(SLC25A13):c.1063C>T (p.Arg355Ter) rs758827458 0.00003
NM_014251.3(SLC25A13):c.127C>T (p.Arg43Ter) rs780525233 0.00003
NM_014251.3(SLC25A13):c.615+5G>A rs80338717 0.00003
NM_014251.3(SLC25A13):c.1064G>A (p.Arg355Gln) rs398122839 0.00001
NM_014251.3(SLC25A13):c.1078C>T (p.Arg360Ter) rs80338721 0.00001
NM_014251.3(SLC25A13):c.1177+1G>A rs80338722 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.550C>T (p.Arg184Ter) rs80338716 0.00001
NM_014251.3(SLC25A13):c.70-1G>A rs962082210 0.00001
NM_014251.3(SLC25A13):c.1063C>G (p.Arg355Gly) rs758827458
NM_014251.3(SLC25A13):c.1095del (p.Phe365fs) rs1794540164
NM_014251.3(SLC25A13):c.1193T>A (p.Leu398Ter)
NM_014251.3(SLC25A13):c.1399C>T (p.Arg467Ter) rs540149539
NM_014251.3(SLC25A13):c.1453-2A>T rs2116426311
NM_014251.3(SLC25A13):c.1610_1612delinsAT (p.Leu537fs)
NM_014251.3(SLC25A13):c.1736G>A (p.Trp579Ter)
NM_014251.3(SLC25A13):c.1800C>A (p.Tyr600Ter)
NM_014251.3(SLC25A13):c.1801G>T (p.Glu601Ter) rs80338727
NM_014251.3(SLC25A13):c.229G>T (p.Glu77Ter) rs1254503252
NM_014251.3(SLC25A13):c.674C>A (p.Ser225Ter) rs80338719
NM_014251.3(SLC25A13):c.754G>A (p.Glu252Lys) rs973986984
NM_014251.3(SLC25A13):c.852_855del (p.Met285fs) rs80338720

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