List of variants reported as pathogenic for citrullinemia by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 240

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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.919C>T (p.Arg307Cys)	rs183276875	0.00011
NM_014251.3(SLC25A13):c.848+3A>C	rs369402461	0.00009
NM_054012.4(ASS1):c.1003C>T (p.Arg335Cys)	rs373514077	0.00009
NM_054012.4(ASS1):c.245T>C (p.Leu82Pro)	rs559043503	0.00009
NM_054012.4(ASS1):c.470G>A (p.Arg157His)	rs121908637	0.00007
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg)	rs121908646	0.00007
NM_054012.4(ASS1):c.805G>A (p.Val269Met)	rs370595480	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.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.787G>A (p.Val263Met)	rs192838388	0.00004
NM_054012.4(ASS1):c.847G>A (p.Glu283Lys)	rs765338121	0.00004
NM_054012.4(ASS1):c.892del (p.Glu298fs)	rs770362721	0.00004
NM_014251.3(SLC25A13):c.1063C>T (p.Arg355Ter)	rs758827458	0.00003
NM_014251.3(SLC25A13):c.1064G>A (p.Arg355Gln)	rs398122839	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_054012.4(ASS1):c.1069C>T (p.Gln357Ter)	rs756859126	0.00003
NM_054012.4(ASS1):c.571G>A (p.Glu191Lys)	rs777828000	0.00003
NM_054012.4(ASS1):c.773+4A>C	rs763191684	0.00003
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser)	rs121908639	0.00003
NM_014251.3(SLC25A13):c.1048G>A (p.Asp350Asn)	rs1312396424	0.00002
NM_054012.4(ASS1):c.1194-1G>C	rs727503814	0.00002
NM_054012.4(ASS1):c.175-1119G>A	rs1488840592	0.00002
NM_054012.4(ASS1):c.370G>A (p.Asp124Asn)	rs936192871	0.00002
NM_054012.4(ASS1):c.814C>T (p.Arg272Cys)	rs762387914	0.00002
NM_054012.4(ASS1):c.836G>A (p.Arg279Gln)	rs371265106	0.00002
NM_054012.4(ASS1):c.910C>T (p.Arg304Trp)	rs121908642	0.00002
NM_014251.3(SLC25A13):c.1075C>T (p.Gln359Ter)	rs1794541339	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.1231G>A (p.Val411Met)	rs768922690	0.00001
NM_014251.3(SLC25A13):c.1307G>A (p.Gly436Asp)	rs1309471492	0.00001
NM_014251.3(SLC25A13):c.1311+1G>A	rs80338723	0.00001
NM_014251.3(SLC25A13):c.1399C>T (p.Arg467Ter)	rs540149539	0.00001
NM_014251.3(SLC25A13):c.152del (p.Ser51fs)	rs1396885141	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.1677C>G (p.Tyr559Ter)	rs201168119	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.550C>T (p.Arg184Ter)	rs80338716	0.00001
NM_014251.3(SLC25A13):c.955C>T (p.Arg319Ter)	rs763191789	0.00001
NM_054012.4(ASS1):c.1030C>T (p.Arg344Ter)	rs786204537	0.00001
NM_054012.4(ASS1):c.1088G>A (p.Arg363Gln)	rs771937610	0.00001
NM_054012.4(ASS1):c.1117G>T (p.Glu373Ter)	rs1453708640	0.00001
NM_054012.4(ASS1):c.1173C>A (p.Phe391Leu)	rs1554725724	0.00001
NM_054012.4(ASS1):c.174+1G>A	rs748264993	0.00001
NM_054012.4(ASS1):c.174+1G>T	rs748264993	0.00001
NM_054012.4(ASS1):c.256C>T (p.Arg86Cys)	rs121908644	0.00001
NM_054012.4(ASS1):c.257G>A (p.Arg86His)	rs575001023	0.00001
NM_054012.4(ASS1):c.271A>C (p.Thr91Pro)	rs769018733	0.00001
NM_054012.4(ASS1):c.349G>A (p.Gly117Ser)	rs770944877	0.00001
NM_054012.4(ASS1):c.380G>A (p.Arg127Gln)	rs201623252	0.00001
NM_054012.4(ASS1):c.40G>A (p.Gly14Ser)	rs121908636	0.00001
NM_054012.4(ASS1):c.421-2A>G	rs751930594	0.00001
NM_054012.4(ASS1):c.53C>T (p.Ser18Leu)	rs121908643	0.00001
NM_054012.4(ASS1):c.773+49C>T	rs763389916	0.00001
NM_054012.4(ASS1):c.793C>T (p.Arg265Cys)	rs148918985	0.00001
NM_054012.4(ASS1):c.794G>A (p.Arg265His)	rs398123131	0.00001
NM_054012.4(ASS1):c.835C>T (p.Arg279Ter)	rs121908645	0.00001
NM_054012.4(ASS1):c.838+1G>T	rs750214431	0.00001
NM_054012.4(ASS1):c.893A>G (p.Glu298Gly)	rs372061654	0.00001
NM_054012.4(ASS1):c.929A>G (p.Lys310Arg)	rs199751308	0.00001
NM_054012.4(ASS1):c.970+5G>A	rs372128852	0.00001
NC_000007.13:g.(?_95749522)_(95751319_?)del
NC_000007.13:g.(?_95761045)_(95761203_?)dup
NC_000007.13:g.(?_95775848)_(95776028_?)del
NC_000007.13:g.(?_95799347)_(95800846_?)del
NC_000007.13:g.(?_95800764)_(95951268_?)del
NC_000007.13:g.(?_95812693)_(95813744_?)del
NC_000007.13:g.(?_95813569)_(95951268_?)del
NC_000007.13:g.(?_95838130)_(95838309_?)del
NC_000007.13:g.(?_95838140)_(95838299_?)del
NC_000007.13:g.(?_95906498)_(95906660_?)del
NC_000007.13:g.(?_95926190)_(95926283_?)del
NC_000007.13:g.(?_95951234)_(95951268_?)del
NC_000007.14:g.(?_96191099)_(96193193_?)del
NC_000007.14:g.(?_96234792)_(96234927_?)del
NC_000009.11:g.(?_133319094)_(133377661_?)del
NC_000009.11:g.(?_133327601)_(133376418_?)del
NC_000009.11:g.(?_133327616)_(133327740_?)del
NC_000009.11:g.(?_133327616)_(133333996_?)del
NC_000009.11:g.(?_133333768)_(133333996_?)del
NC_000009.11:g.(?_133339478)_(133346922_?)del
NC_000009.11:g.(?_133339488)_(133339564_?)del
NC_000009.11:g.(?_133342092)_(133342206_?)del
NC_000009.11:g.(?_133346201)_(133376408_?)del
NC_000009.11:g.(?_133352248)_(133352358_?)del
NC_000009.11:g.(?_133352248)_(133355846_?)del
NC_000009.11:g.(?_133355083)_(133355856_?)del
NC_000009.11:g.(?_133355093)_(133355236_?)del
NC_000009.12:g.(?_130452214)_(130454383_?)del
NC_000009.12:g.(?_130458401)_(130458589_?)del
NC_000009.12:g.(?_130464091)_(130464187_?)del
NC_000009.12:g.130479718dup	rs2118839419
NM_000050.4(ASS1):c.366delG	rs1057516544
NM_014251.3(SLC25A13):c.1063C>G (p.Arg355Gly)	rs758827458
NM_014251.3(SLC25A13):c.1095del (p.Phe365fs)	rs1794540164
NM_014251.3(SLC25A13):c.111del (p.Asn38fs)	rs2116939333
NM_014251.3(SLC25A13):c.1164del (p.Phe388fs)	rs59507540
NM_014251.3(SLC25A13):c.1173dup (p.Arg392Ter)	rs1794536022
NM_014251.3(SLC25A13):c.1193del (p.Leu398fs)	rs2485736833
NM_014251.3(SLC25A13):c.1196T>A (p.Leu399Ter)	rs1004549438
NM_014251.3(SLC25A13):c.1228dup (p.Thr410fs)	rs1286193203
NM_014251.3(SLC25A13):c.1230+1G>A	rs571127452
NM_014251.3(SLC25A13):c.124del (p.Thr42fs)	rs2116939236
NM_014251.3(SLC25A13):c.1258del (p.Met420fs)	rs2485729829
NM_014251.3(SLC25A13):c.1311+1G>C	rs80338723
NM_014251.3(SLC25A13):c.1311C>A (p.Cys437Ter)	rs879255502
NM_014251.3(SLC25A13):c.1324C>T (p.Gln442Ter)	rs2116482158
NM_014251.3(SLC25A13):c.132C>G (p.Tyr44Ter)	rs2116939192
NM_014251.3(SLC25A13):c.1375del (p.Ala459fs)	rs1178306013
NM_014251.3(SLC25A13):c.1416_1419del (p.Val473fs)	rs773624358
NM_014251.3(SLC25A13):c.1449C>A (p.Tyr483Ter)	rs1792801432
NM_014251.3(SLC25A13):c.1453-1G>A	rs1792048079
NM_014251.3(SLC25A13):c.1453-1G>C	rs1792048079
NM_014251.3(SLC25A13):c.1453-2A>G	rs2116426311
NM_014251.3(SLC25A13):c.1453-2A>T	rs2116426311
NM_014251.3(SLC25A13):c.1486_1489del (p.Phe496fs)	rs756182703
NM_014251.3(SLC25A13):c.15G>A (p.Lys5=)	rs80338715
NM_014251.3(SLC25A13):c.16-2A>G	rs1799374421
NM_014251.3(SLC25A13):c.1603_1609dup (p.Leu537fs)	rs1791532136
NM_014251.3(SLC25A13):c.1610del (p.Ser536_Leu537insTer)	rs750225643
NM_014251.3(SLC25A13):c.1612del (p.Leu537_Val538insTer)	rs2116384695
NM_014251.3(SLC25A13):c.1622C>A (p.Ala541Asp)	rs2485543716
NM_014251.3(SLC25A13):c.1633_1637dup (p.Leu548fs)	rs2116384455
NM_014251.3(SLC25A13):c.1643T>G (p.Leu548Ter)	rs2485543530
NM_014251.3(SLC25A13):c.1658_1661dup (p.Gln556fs)	rs2116384200
NM_014251.3(SLC25A13):c.1676dup (p.Tyr559Ter)	rs2485543139
NM_014251.3(SLC25A13):c.1677C>A (p.Tyr559Ter)	rs201168119
NM_014251.3(SLC25A13):c.1712del (p.Arg571fs)	rs1554335461
NM_014251.3(SLC25A13):c.173_174del (p.Val58fs)	rs1798487766
NM_014251.3(SLC25A13):c.1751-5_1751-4insGATTTCTCCATTTTTTTTTTTTTTTTTNNNNNNNNNNGTCCCCCCGCCCCCCGAGCCCGAACCCCTTTCCACTGCCAACACCTCACCTCGCCCCCGCCGCCATCTTCCTCCTCCCTTGGCAGCCCCGCCCCCC
NM_014251.3(SLC25A13):c.175del (p.Glu59fs)	rs2486088642
NM_014251.3(SLC25A13):c.1769C>A (p.Ser590Ter)	rs1323174734
NM_014251.3(SLC25A13):c.1800C>A (p.Tyr600Ter)	rs765919667
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.276del (p.Phe92fs)	rs2116815571
NM_014251.3(SLC25A13):c.27del (p.Lys10fs)	rs2486153684
NM_014251.3(SLC25A13):c.363del (p.His122fs)	rs2485894532
NM_014251.3(SLC25A13):c.415G>A (p.Gly139Arg)	rs1269555090
NM_014251.3(SLC25A13):c.415_428del (p.Gly139fs)	rs2485894223
NM_014251.3(SLC25A13):c.420del (p.Glu141fs)	rs1562844289
NM_014251.3(SLC25A13):c.429_430del (p.Arg144fs)	rs2116717319
NM_014251.3(SLC25A13):c.457C>T (p.Gln153Ter)	rs2116717136
NM_014251.3(SLC25A13):c.475C>T (p.Gln159Ter)	rs2116663520
NM_014251.3(SLC25A13):c.493C>T (p.Gln165Ter)	rs1562831765
NM_014251.3(SLC25A13):c.528dup (p.Arg177fs)	rs1794924933
NM_014251.3(SLC25A13):c.535dup (p.Thr179fs)	rs2485838622
NM_014251.3(SLC25A13):c.550del (p.Arg184fs)	rs2485838385
NM_014251.3(SLC25A13):c.571del (p.Arg191fs)	rs1482630982
NM_014251.3(SLC25A13):c.605_608dup (p.Val204fs)	rs762941850
NM_014251.3(SLC25A13):c.607_611dup (p.Val204_Ala205insTer)	rs1794918929
NM_014251.3(SLC25A13):c.615+1G>A	rs80338718
NM_014251.3(SLC25A13):c.640C>T (p.Gln214Ter)	rs2116656505
NM_014251.3(SLC25A13):c.65_66insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGAACAATATTTTT (p.Leu22delinsPhePhePhePhePhePhePheXaaXaaXaaXaaProArgProProLysValLeuGlyLeuGlnAlaTer)
NM_014251.3(SLC25A13):c.66_67insC (p.Lys23fs)	rs1255908000
NM_014251.3(SLC25A13):c.674C>A (p.Ser225Ter)	rs80338719
NM_014251.3(SLC25A13):c.687del (p.Asn229fs)	rs2485829669
NM_014251.3(SLC25A13):c.70-12_72del	rs2486089519
NM_014251.3(SLC25A13):c.754G>A (p.Glu252Lys)	rs973986984
NM_014251.3(SLC25A13):c.775C>T (p.Gln259Ter)	rs746155190
NM_014251.3(SLC25A13):c.787C>T (p.Gln263Ter)
NM_014251.3(SLC25A13):c.792del (p.Thr265fs)	rs2116650029
NM_014251.3(SLC25A13):c.848+1G>A	rs761370420
NM_014251.3(SLC25A13):c.848+1del	rs758135569
NM_014251.3(SLC25A13):c.852_855del (p.Met285fs)	rs80338720
NM_014251.3(SLC25A13):c.881_894del (p.Ala294fs)	rs2485819162
NM_014251.3(SLC25A13):c.89dup (p.Asn30fs)	rs1562897434
NM_014251.3(SLC25A13):c.919G>T (p.Glu307Ter)	rs2116648196
NM_014251.3(SLC25A13):c.94G>T (p.Glu32Ter)	rs2116939424
NM_014251.3(SLC25A13):c.970C>T (p.Gln324Ter)	rs1012084121
NM_014251.3(SLC25A13):c.979G>T (p.Glu327Ter)	rs2485796243
NM_014251.3(SLC25A13):c.980_981del (p.Glu327fs)	rs764401478
NM_014251.3(SLC25A13):c.990C>A (p.Tyr330Ter)	rs534585904
NM_054012.4(ASS1):c.1010_1011delinsAA (p.Cys337Ter)	rs2118880115
NM_054012.4(ASS1):c.1048C>T (p.Gln350Ter)	rs2118880266
NM_054012.4(ASS1):c.1060del (p.Leu354fs)	rs2490621965
NM_054012.4(ASS1):c.1075T>G (p.Tyr359Asp)	rs1262020902
NM_054012.4(ASS1):c.1085G>T (p.Gly362Val)	rs121908647
NM_054012.4(ASS1):c.1090del (p.Glu364fs)	rs2490622155
NM_054012.4(ASS1):c.1107_1108del (p.Tyr370fs)	rs2118880626
NM_054012.4(ASS1):c.1128-6_1188dup	rs1554725677
NM_054012.4(ASS1):c.1128_1134delinsG (p.Ser376_Asn378delinsArg)	rs1439911743
NM_054012.4(ASS1):c.1138C>T (p.Gln380Ter)	rs786204460
NM_054012.4(ASS1):c.115G>C (p.Gly39Arg)	rs2131869276
NM_054012.4(ASS1):c.1166C>T (p.Thr389Ile)	rs1474017319
NM_054012.4(ASS1):c.120del (p.Lys41fs)	rs1554982237
NM_054012.4(ASS1):c.138_139del (p.Glu46fs)	rs2490520629
NM_054012.4(ASS1):c.188_189del (p.Asp63fs)	rs1305436274
NM_054012.4(ASS1):c.199G>T (p.Glu67Ter)	rs1257036291
NM_054012.4(ASS1):c.216C>G (p.Phe72Leu)	rs1554982824
NM_054012.4(ASS1):c.222G>A (p.Trp74Ter)	rs2490531268
NM_054012.4(ASS1):c.241_242del (p.Ala81fs)	rs2490531312
NM_054012.4(ASS1):c.262C>A (p.Leu88Ile)	rs895822620
NM_054012.4(ASS1):c.285_286delinsTT (p.Arg95_Pro96delinsSerSer)	rs2490531703
NM_054012.4(ASS1):c.319del (p.Gln107fs)	rs1564903969
NM_054012.4(ASS1):c.339T>G (p.Tyr113Ter)	rs1845506282
NM_054012.4(ASS1):c.350G>A (p.Gly117Asp)	rs745404241
NM_054012.4(ASS1):c.356C>T (p.Thr119Ile)	rs1845507027
NM_054012.4(ASS1):c.373C>T (p.Gln125Ter)	rs2131879687
NM_054012.4(ASS1):c.412C>T (p.Gln138Ter)	rs1057516339
NM_054012.4(ASS1):c.412dup (p.Gln138fs)	rs1554983717
NM_054012.4(ASS1):c.450_451del (p.Phe150fs)	rs786204648
NM_054012.4(ASS1):c.460_467del (p.Phe154fs)	rs1004492719
NM_054012.4(ASS1):c.463A>T (p.Lys155Ter)	rs746855701
NM_054012.4(ASS1):c.484dup (p.Glu162fs)	rs1313340299
NM_054012.4(ASS1):c.489C>A (p.Tyr163Ter)	rs377319610
NM_054012.4(ASS1):c.489C>G (p.Tyr163Ter)	rs377319610
NM_054012.4(ASS1):c.490G>C (p.Ala164Pro)	rs201445618
NM_054012.4(ASS1):c.536G>A (p.Trp179Ter)	rs2131886482
NM_054012.4(ASS1):c.537G>A (p.Trp179Ter)	rs1409764603
NM_054012.4(ASS1):c.539G>A (p.Ser180Asn)	rs121908638
NM_054012.4(ASS1):c.571G>C (p.Glu191Gln)	rs777828000
NM_054012.4(ASS1):c.57C>A (p.Cys19Ter)	rs2490515237
NM_054012.4(ASS1):c.601C>T (p.Gln201Ter)	rs563922134
NM_054012.4(ASS1):c.605C>A (p.Ala202Glu)	rs376371866
NM_054012.4(ASS1):c.611del (p.Pro204fs)	rs2118832071
NM_054012.4(ASS1):c.621C>A (p.Tyr207Ter)	rs2118832096
NM_054012.4(ASS1):c.631C>T (p.Gln211Ter)	rs2490581988
NM_054012.4(ASS1):c.687dup (p.Gly230fs)	rs2490582195
NM_054012.4(ASS1):c.773+1G>A	rs982830431
NM_054012.4(ASS1):c.773+1G>T	rs982830431
NM_054012.4(ASS1):c.812dup (p.Asn271fs)	rs759483921
NM_054012.4(ASS1):c.815G>A (p.Arg272His)	rs768215008
NM_054012.4(ASS1):c.827_838+25del	rs2490592318
NM_054012.4(ASS1):c.832del (p.Ser278fs)	rs1846142146
NM_054012.4(ASS1):c.846C>A (p.Tyr282Ter)	rs549085827
NM_054012.4(ASS1):c.919C>A (p.Arg307Ser)	rs183276875
NM_054012.4(ASS1):c.931C>T (p.Gln311Ter)	rs1301613270
NM_054012.4(ASS1):c.944T>A (p.Leu315Ter)	rs2118864334
NM_054012.4(ASS1):c.951del (p.Phe317fs)	rs775791516
NM_054012.4(ASS1):c.971G>T (p.Gly324Val)	rs1554725034
NM_054012.4(ASS1):c.978del (p.Trp326fs)	rs1057516338
NM_054012.4(ASS1):c.983_984insGGTGAATTTG (p.Ser328fs)	rs2490621719

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