ClinVar Miner

List of variants studied for citrullinemia, type II, adult-onset

Included ClinVar conditions (2):
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Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_014251.3(SLC25A13):c.328+6A>G rs6957975 0.67687
NM_014251.3(SLC25A13):c.1194A>G (p.Leu398=) rs2301629 0.34968
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.1354G>A (p.Val452Ile) rs143877538 0.00019
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.1231-1G>A rs781452100 0.00004
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.1505C>T (p.Pro502Leu) rs139149160 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.1173T>G (p.Tyr391Ter) rs762925301 0.00001
NM_014251.3(SLC25A13):c.1177+1G>A rs80338722 0.00001
NM_014251.3(SLC25A13):c.1231G>A (p.Val411Met) rs768922690 0.00001
NM_014251.3(SLC25A13):c.1311+1G>A rs80338723 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.1762C>T (p.Arg588Ter) rs1261058897 0.00001
NM_014251.3(SLC25A13):c.1799dup (p.Tyr600Ter) rs80338726 0.00001
NM_014251.3(SLC25A13):c.185G>A (p.Ser62Asn) rs577901657 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.73G>A (p.Ala25Thr) rs759288496 0.00001
NM_014251.3(SLC25A13):c.848+1G>T rs761370420 0.00001
NM_014251.3(SLC25A13):c.1039_1061delinsA (p.Tyr347fs)
NM_014251.3(SLC25A13):c.1063C>G (p.Arg355Gly) rs758827458
NM_014251.3(SLC25A13):c.1069C>T (p.Gln357Ter)
NM_014251.3(SLC25A13):c.1095del (p.Phe365fs) rs1794540164
NM_014251.3(SLC25A13):c.1108_1109del (p.Met370fs)
NM_014251.3(SLC25A13):c.1174_1177delinsT (p.Arg392_Gly393delinsCys)
NM_014251.3(SLC25A13):c.1176_1177+1delinsT
NM_014251.3(SLC25A13):c.1177G>A (p.Gly393Ser) rs1562823061
NM_014251.3(SLC25A13):c.1178-1G>T rs1794001446
NM_014251.3(SLC25A13):c.1193T>A (p.Leu398Ter)
NM_014251.3(SLC25A13):c.1311+2dup
NM_014251.3(SLC25A13):c.135G>C (p.Leu45Phe) rs1798490375
NM_014251.3(SLC25A13):c.1364G>T (p.Arg455Leu)
NM_014251.3(SLC25A13):c.1399C>T (p.Arg467Ter) rs540149539
NM_014251.3(SLC25A13):c.1420G>A (p.Val474Met) rs554809009
NM_014251.3(SLC25A13):c.1453-1G>C
NM_014251.3(SLC25A13):c.1453-2A>T rs2116426311
NM_014251.3(SLC25A13):c.1498del (p.Tyr500fs)
NM_014251.3(SLC25A13):c.1549C>T (p.Gln517Ter)
NM_014251.3(SLC25A13):c.1591+1G>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.1610_1612delinsAT (p.Leu537fs)
NM_014251.3(SLC25A13):c.1615dup (p.Thr539fs)
NM_014251.3(SLC25A13):c.1637C>T (p.Thr546Met) rs548769905
NM_014251.3(SLC25A13):c.1637del (p.Thr546fs)
NM_014251.3(SLC25A13):c.1658_1661dup (p.Gln556fs) rs2116384200
NM_014251.3(SLC25A13):c.1676dup (p.Tyr559Ter)
NM_014251.3(SLC25A13):c.1736G>A (p.Trp579Ter)
NM_014251.3(SLC25A13):c.1750+1G>C rs771583670
NM_014251.3(SLC25A13):c.1750+1G>T
NM_014251.3(SLC25A13):c.1769C>A (p.Ser590Ter)
NM_014251.3(SLC25A13):c.1800C>A (p.Tyr600Ter)
NM_014251.3(SLC25A13):c.1801G>T (p.Glu601Ter) rs80338727
NM_014251.3(SLC25A13):c.1824dup (p.Ile609fs)
NM_014251.3(SLC25A13):c.1841+1G>T
NM_014251.3(SLC25A13):c.213-1G>C
NM_014251.3(SLC25A13):c.229G>T (p.Glu77Ter) rs1254503252
NM_014251.3(SLC25A13):c.231_240del (p.Glu77fs)
NM_014251.3(SLC25A13):c.331_334delinsAGAAACTCT (p.Asp111fs)
NM_014251.3(SLC25A13):c.353del (p.Gln118fs)
NM_014251.3(SLC25A13):c.429_430del (p.Arg144fs) rs2116717319
NM_014251.3(SLC25A13):c.505C>T (p.Gln169Ter)
NM_014251.3(SLC25A13):c.528dup (p.Arg177fs) rs1794924933
NM_014251.3(SLC25A13):c.571del (p.Arg191fs) rs1482630982
NM_014251.3(SLC25A13):c.577dup (p.His193fs)
NM_014251.3(SLC25A13):c.587_588insAA (p.Pro197fs)
NM_014251.3(SLC25A13):c.671del (p.Asn224fs)
NM_014251.3(SLC25A13):c.674C>A (p.Ser225Ter) rs80338719
NM_014251.3(SLC25A13):c.70-2A>T
NM_014251.3(SLC25A13):c.74C>A (p.Ala25Glu)
NM_014251.3(SLC25A13):c.754G>A (p.Glu252Lys) rs973986984
NM_014251.3(SLC25A13):c.836_837del (p.Leu278_Tyr279insTer)
NM_014251.3(SLC25A13):c.848+1del
NM_014251.3(SLC25A13):c.852_855del (p.Met285fs) rs80338720
NM_014251.3(SLC25A13):c.869T>C (p.Ile290Thr)
NM_014251.3(SLC25A13):c.889del (p.Glu297fs)
NM_014251.3(SLC25A13):c.89dup (p.Asn30fs)
NM_014251.3(SLC25A13):c.925C>T (p.Gln309Ter)
NM_014251.3(SLC25A13):c.970C>T (p.Gln324Ter) rs1012084121
NM_014251.3(SLC25A13):c.990C>A (p.Tyr330Ter)
NM_014251.3:c.468+4958_502del

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