ClinVar Miner

List of variants studied for Neonatal intrahepatic cholestasis due to citrin deficiency; Citrullinemia, type II, adult-onset by Fulgent Genetics, Fulgent Genetics

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_014251.3(SLC25A13):c.-115G>T rs543933601 0.00089
NM_014251.3(SLC25A13):c.2T>C (p.Met1Thr) rs541276426 0.00041
NM_014251.3(SLC25A13):c.1814G>A (p.Arg605Gln) rs548194276 0.00010
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.1336A>C (p.Thr446Pro) rs200237622 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.1048G>A (p.Asp350Asn) rs1312396424 0.00002
NM_014251.3(SLC25A13):c.1157G>C (p.Gly386Ala) rs776461118 0.00002
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.1637C>G (p.Thr546Arg) rs548769905 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_014251.3(SLC25A13):c.70-1G>A rs962082210 0.00001
NM_014251.3(SLC25A13):c.103A>G (p.Met35Val)
NM_014251.3(SLC25A13):c.1046T>C (p.Ile349Thr)
NM_014251.3(SLC25A13):c.1113T>G (p.Tyr371Ter)
NM_014251.3(SLC25A13):c.1178-1G>C
NM_014251.3(SLC25A13):c.1196T>A (p.Leu399Ter) rs1004549438
NM_014251.3(SLC25A13):c.1210G>T (p.Glu404Ter) rs1793999476
NM_014251.3(SLC25A13):c.1307_1308delinsAA (p.Gly436Glu)
NM_014251.3(SLC25A13):c.1311+1G>C
NM_014251.3(SLC25A13):c.1364G>T (p.Arg455Leu)
NM_014251.3(SLC25A13):c.1453-2A>T rs2116426311
NM_014251.3(SLC25A13):c.15+2T>G
NM_014251.3(SLC25A13):c.1610_1612delinsAT (p.Leu537fs)
NM_014251.3(SLC25A13):c.1688_1689del (p.Ile563fs)
NM_014251.3(SLC25A13):c.1793T>G (p.Leu598Arg)
NM_014251.3(SLC25A13):c.1796_1802del (p.Thr599fs)
NM_014251.3(SLC25A13):c.247del (p.Ser83fs)
NM_014251.3(SLC25A13):c.276del (p.Phe92fs) rs2116815571
NM_014251.3(SLC25A13):c.2T>A (p.Met1Lys) rs541276426
NM_014251.3(SLC25A13):c.605_608dup (p.Val204fs) rs762941850
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.762_765del (p.Val255fs)
NM_014251.3(SLC25A13):c.762del (p.Phe254fs)
NM_014251.3(SLC25A13):c.775C>T (p.Gln259Ter) rs746155190
NM_014251.3(SLC25A13):c.852_855del (p.Met285fs) rs80338720
NM_014251.3(SLC25A13):c.869T>C (p.Ile290Thr)
NM_014251.3(SLC25A13):c.931C>T (p.Gln311Ter)
NM_014251.3(SLC25A13):c.970C>T (p.Gln324Ter) rs1012084121

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