ClinVar Miner

List of variants studied for Holocarboxylase synthetase deficiency by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 262
Download table as spreadsheet
HGVS dbSNP
NC_000021.8:g.(?_37133458)_(38311203_?)dup
NC_000021.8:g.(?_38269140)_(38269451_?)del
NC_000021.8:g.(?_38269140)_(38311203_?)del
NC_000021.8:g.(?_38302541)_(38311304_?)del
NC_000021.9:g.(?_36765002)_(36767295_?)del
NC_000021.9:g.(?_36930231)_(36930453_?)dup
NC_000021.9:g.(?_36938822)_(36939004_?)del
NM_001352514.2(HLCS):c.1002C>T (p.Ala334=) rs116114362
NM_001352514.2(HLCS):c.1025dup (p.Tyr342Ter) rs1601803431
NM_001352514.2(HLCS):c.1032C>A (p.Leu344=)
NM_001352514.2(HLCS):c.1045G>T (p.Glu349Ter) rs148324626
NM_001352514.2(HLCS):c.1059C>G (p.Leu353=)
NM_001352514.2(HLCS):c.1068G>A (p.Pro356=) rs73196003
NM_001352514.2(HLCS):c.1073C>T (p.Thr358Met) rs142524025
NM_001352514.2(HLCS):c.1074G>A (p.Thr358=) rs116985497
NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg) rs28934602
NM_001352514.2(HLCS):c.1093G>T (p.Val365Phe) rs1569216588
NM_001352514.2(HLCS):c.1096dup (p.Ile366fs) rs773102942
NM_001352514.2(HLCS):c.1101T>C (p.Ala367=)
NM_001352514.2(HLCS):c.1119C>G (p.Pro373=)
NM_001352514.2(HLCS):c.1119C>T (p.Pro373=) rs768927843
NM_001352514.2(HLCS):c.1122A>G (p.Glu374=)
NM_001352514.2(HLCS):c.1126C>T (p.Leu376=)
NM_001352514.2(HLCS):c.1128G>A (p.Leu376=)
NM_001352514.2(HLCS):c.1140C>T (p.Phe380=)
NM_001352514.2(HLCS):c.1151T>G (p.Leu384Arg) rs119103227
NM_001352514.2(HLCS):c.1156C>T (p.Gln386Ter)
NM_001352514.2(HLCS):c.1164G>A (p.Gly388=)
NM_001352514.2(HLCS):c.1179G>A (p.Leu393=)
NM_001352514.2(HLCS):c.1185A>G (p.Ser395=)
NM_001352514.2(HLCS):c.1185A>T (p.Ser395=)
NM_001352514.2(HLCS):c.1188C>T (p.Ser396=)
NM_001352514.2(HLCS):c.1194C>T (p.Thr398=) rs149877080
NM_001352514.2(HLCS):c.1223del (p.Gly408fs) rs771944310
NM_001352514.2(HLCS):c.1227A>C (p.Ala409=) rs776771975
NM_001352514.2(HLCS):c.1233C>A (p.His411Gln)
NM_001352514.2(HLCS):c.1242C>G (p.Val414=)
NM_001352514.2(HLCS):c.1249T>C (p.Leu417=) rs535891229
NM_001352514.2(HLCS):c.1260C>T (p.Ser420=)
NM_001352514.2(HLCS):c.1266T>C (p.Ala422=)
NM_001352514.2(HLCS):c.1275C>T (p.Ser425=) rs1065758
NM_001352514.2(HLCS):c.1278G>A (p.Glu426=) rs548505968
NM_001352514.2(HLCS):c.1290C>T (p.Ser430=) rs1472760580
NM_001352514.2(HLCS):c.1291G>A (p.Val431Ile) rs376903098
NM_001352514.2(HLCS):c.1302T>C (p.Ser434=)
NM_001352514.2(HLCS):c.1314C>T (p.Tyr438=)
NM_001352514.2(HLCS):c.1326C>T (p.Pro442=) rs143393390
NM_001352514.2(HLCS):c.1328T>G (p.Val443Gly) rs778061862
NM_001352514.2(HLCS):c.1330C>A (p.Arg444=)
NM_001352514.2(HLCS):c.1330C>T (p.Arg444Trp) rs139902499
NM_001352514.2(HLCS):c.1331G>A (p.Arg444Gln) rs146030669
NM_001352514.2(HLCS):c.1332G>C (p.Arg444=)
NM_001352514.2(HLCS):c.1341C>T (p.Pro447=)
NM_001352514.2(HLCS):c.1342G>A (p.Gly448Ser) rs200886053
NM_001352514.2(HLCS):c.1347G>C (p.Arg449Ser) rs142621386
NM_001352514.2(HLCS):c.1356C>T (p.Gly452=)
NM_001352514.2(HLCS):c.1369G>A (p.Glu457Lys)
NM_001352514.2(HLCS):c.1371G>A (p.Glu457=)
NM_001352514.2(HLCS):c.1390G>T (p.Val464Leu) rs144705277
NM_001352514.2(HLCS):c.1395T>C (p.His465=)
NM_001352514.2(HLCS):c.1412G>A (p.Arg471His) rs61732501
NM_001352514.2(HLCS):c.1413C>A (p.Arg471=)
NM_001352514.2(HLCS):c.1413C>T (p.Arg471=) rs533602689
NM_001352514.2(HLCS):c.1414G>A (p.Gly472Arg)
NM_001352514.2(HLCS):c.1422A>G (p.Glu474=) rs189674085
NM_001352514.2(HLCS):c.1439T>A (p.Val480Glu)
NM_001352514.2(HLCS):c.1480C>T (p.Pro494Ser)
NM_001352514.2(HLCS):c.1494C>T (p.Asn498=) rs1065759
NM_001352514.2(HLCS):c.1496T>A (p.Leu499Ter) rs1601779091
NM_001352514.2(HLCS):c.1500C>A (p.Leu500=) rs200631719
NM_001352514.2(HLCS):c.1524C>T (p.Tyr508=)
NM_001352514.2(HLCS):c.1529T>A (p.Val510Asp) rs769499327
NM_001352514.2(HLCS):c.1550C>T (p.Thr517Ile) rs575286749
NM_001352514.2(HLCS):c.1552del (p.Gly519fs)
NM_001352514.2(HLCS):c.1576C>T (p.Gln526Ter) rs1393866282
NM_001352514.2(HLCS):c.1596T>G (p.Pro532=)
NM_001352514.2(HLCS):c.1617G>A (p.Ala539=) rs111603166
NM_001352514.2(HLCS):c.1620+7del rs140568778
NM_001352514.2(HLCS):c.1621-12T>C rs367728041
NM_001352514.2(HLCS):c.1621-13_1621-10del rs377641674
NM_001352514.2(HLCS):c.1621-9A>G rs374646852
NM_001352514.2(HLCS):c.1627A>C (p.Arg543=)
NM_001352514.2(HLCS):c.1629G>A (p.Arg543=)
NM_001352514.2(HLCS):c.1632T>C (p.Asp544=)
NM_001352514.2(HLCS):c.1635T>G (p.Pro545=)
NM_001352514.2(HLCS):c.1644G>A (p.Gln548=)
NM_001352514.2(HLCS):c.1646G>A (p.Trp549Ter)
NM_001352514.2(HLCS):c.1668C>A (p.Ser556=) rs771923409
NM_001352514.2(HLCS):c.1668C>T (p.Ser556=)
NM_001352514.2(HLCS):c.1669G>A (p.Glu557Lys)
NM_001352514.2(HLCS):c.1683A>G (p.Lys561=)
NM_001352514.2(HLCS):c.1686C>G (p.Ser562=) rs141905941
NM_001352514.2(HLCS):c.1695C>T (p.Leu565=) rs138209330
NM_001352514.2(HLCS):c.1698T>G (p.Ser566=)
NM_001352514.2(HLCS):c.1698_1701del (p.Leu567fs)
NM_001352514.2(HLCS):c.1699_1700del (p.Ser566_Leu567insTer) rs1555930523
NM_001352514.2(HLCS):c.1719C>T (p.Tyr573=)
NM_001352514.2(HLCS):c.1773G>A (p.Glu591=)
NM_001352514.2(HLCS):c.1797C>T (p.Asn599=)
NM_001352514.2(HLCS):c.1811G>A (p.Arg604His)
NM_001352514.2(HLCS):c.1821G>A (p.Leu607=)
NM_001352514.2(HLCS):c.1843G>C (p.Val615Leu)
NM_001352514.2(HLCS):c.1851G>A (p.Leu617=)
NM_001352514.2(HLCS):c.1857C>A (p.Ala619=) rs759178651
NM_001352514.2(HLCS):c.1857C>T (p.Ala619=)
NM_001352514.2(HLCS):c.1869del (p.Thr624fs)
NM_001352514.2(HLCS):c.1875G>A (p.Thr625=) rs776800808
NM_001352514.2(HLCS):c.1893-6C>T rs139904712
NM_001352514.2(HLCS):c.1908A>T (p.Thr636=)
NM_001352514.2(HLCS):c.1910C>T (p.Pro637Leu)
NM_001352514.2(HLCS):c.1911G>A (p.Pro637=)
NM_001352514.2(HLCS):c.1918A>G (p.Met640Val) rs772156741
NM_001352514.2(HLCS):c.1922G>T (p.Gly641Val)
NM_001352514.2(HLCS):c.1923C>T (p.Gly641=)
NM_001352514.2(HLCS):c.1935C>T (p.Ile645=)
NM_001352514.2(HLCS):c.1938G>A (p.Ala646=) rs370347318
NM_001352514.2(HLCS):c.1938G>C (p.Ala646=)
NM_001352514.2(HLCS):c.1947G>A (p.Gln649=)
NM_001352514.2(HLCS):c.1950C>G (p.Thr650=)
NM_001352514.2(HLCS):c.1950C>T (p.Thr650=) rs201813658
NM_001352514.2(HLCS):c.1954G>C (p.Gly652Arg) rs1555885056
NM_001352514.2(HLCS):c.1960+16T>A rs73398135
NM_001352514.2(HLCS):c.1960+5G>A rs753887925
NM_001352514.2(HLCS):c.1961-7G>C rs145472697
NM_001352514.2(HLCS):c.1962A>G (p.Gly654=) rs757169763
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp) rs119103229
NM_001352514.2(HLCS):c.1969G>A (p.Gly657Arg) rs75867009
NM_001352514.2(HLCS):c.1974dup (p.Val659fs) rs767533946
NM_001352514.2(HLCS):c.1989T>C (p.Pro663=) rs1601141038
NM_001352514.2(HLCS):c.2034A>G (p.Arg678=)
NM_001352514.2(HLCS):c.2036C>A (p.Ser679Tyr) rs777373322
NM_001352514.2(HLCS):c.2041C>T (p.Leu681=)
NM_001352514.2(HLCS):c.2073G>A (p.Leu691=)
NM_001352514.2(HLCS):c.2088C>T (p.Val696=) rs150794567
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met) rs119103231
NM_001352514.2(HLCS):c.2112C>G (p.Pro704=) rs762221640
NM_001352514.2(HLCS):c.2112C>T (p.Pro704=)
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys) rs149736764
NM_001352514.2(HLCS):c.2121+10G>A
NM_001352514.2(HLCS):c.2121+1G>A rs1175936807
NM_001352514.2(HLCS):c.2121+8C>A
NM_001352514.2(HLCS):c.2121+8C>T
NM_001352514.2(HLCS):c.2130C>T (p.Asn710=)
NM_001352514.2(HLCS):c.2134C>T (p.Arg712Ter) rs772791252
NM_001352514.2(HLCS):c.2135G>A (p.Arg712Gln) rs769446135
NM_001352514.2(HLCS):c.2151C>T (p.Asn717=) rs148709879
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn) rs119103228
NM_001352514.2(HLCS):c.2181C>A (p.Ile727=)
NM_001352514.2(HLCS):c.2181C>T (p.Ile727=) rs375456567
NM_001352514.2(HLCS):c.2182G>A (p.Gly728Ser) rs119103230
NM_001352514.2(HLCS):c.2184C>T (p.Gly728=)
NM_001352514.2(HLCS):c.2196T>A (p.Val732=)
NM_001352514.2(HLCS):c.2203A>G (p.Thr735Ala)
NM_001352514.2(HLCS):c.2205A>C (p.Thr735=)
NM_001352514.2(HLCS):c.2208C>G (p.Leu736=)
NM_001352514.2(HLCS):c.2237-56_2255del
NM_001352514.2(HLCS):c.2251G>A (p.Val751Met) rs1555882115
NM_001352514.2(HLCS):c.2267C>G (p.Pro756Arg) rs1601100788
NM_001352514.2(HLCS):c.2283C>T (p.Asn761=) rs138387445
NM_001352514.2(HLCS):c.2313C>G (p.His771Gln)
NM_001352514.2(HLCS):c.2313C>T (p.His771=)
NM_001352514.2(HLCS):c.2331C>T (p.Pro777=)
NM_001352514.2(HLCS):c.2332T>G (p.Leu778Val) rs199517800
NM_001352514.2(HLCS):c.2340C>T (p.Ala780=) rs760265551
NM_001352514.2(HLCS):c.2341G>A (p.Asp781Asn) rs149399432
NM_001352514.2(HLCS):c.2345A>G (p.Tyr782Cys)
NM_001352514.2(HLCS):c.2346T>C (p.Tyr782=)
NM_001352514.2(HLCS):c.2352C>T (p.Ile784=) rs150263699
NM_001352514.2(HLCS):c.2361C>T (p.Val787=) rs61732507
NM_001352514.2(HLCS):c.2362G>A (p.Val788Met) rs150665851
NM_001352514.2(HLCS):c.2371C>G (p.Leu791Val)
NM_001352514.2(HLCS):c.2388A>G (p.Lys796=)
NM_001352514.2(HLCS):c.2397G>A (p.Gln799=)
NM_001352514.2(HLCS):c.2415C>T (p.Ser805=) rs370117126
NM_001352514.2(HLCS):c.2416G>A (p.Val806Ile) rs368124997
NM_001352514.2(HLCS):c.2418C>G (p.Val806=)
NM_001352514.2(HLCS):c.2418C>T (p.Val806=) rs759416272
NM_001352514.2(HLCS):c.2421T>C (p.Leu807=)
NM_001352514.2(HLCS):c.2424C>G (p.Pro808=)
NM_001352514.2(HLCS):c.2432A>G (p.Tyr811Cys) rs776535574
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter) rs146448211
NM_001352514.2(HLCS):c.2450+1_2450+2del
NM_001352514.2(HLCS):c.2450+7G>C
NM_001352514.2(HLCS):c.2451-19C>T rs78671947
NM_001352514.2(HLCS):c.2451-8C>G rs373177254
NM_001352514.2(HLCS):c.2463C>A (p.Val821=)
NM_001352514.2(HLCS):c.2465A>G (p.His822Arg)
NM_001352514.2(HLCS):c.2467C>T (p.Leu823=)
NM_001352514.2(HLCS):c.2476G>A (p.Ala826Thr)
NM_001352514.2(HLCS):c.2500G>A (p.Val834Ile) rs145648338
NM_001352514.2(HLCS):c.2505C>A (p.Gly835=) rs199936080
NM_001352514.2(HLCS):c.2511C>T (p.Asp837=)
NM_001352514.2(HLCS):c.2512G>A (p.Asp838Asn)
NM_001352514.2(HLCS):c.2526C>G (p.Leu842=)
NM_001352514.2(HLCS):c.2526C>T (p.Leu842=) rs147256659
NM_001352514.2(HLCS):c.2544C>T (p.Gly848=) rs142437842
NM_001352514.2(HLCS):c.2547C>G (p.Gly849=)
NM_001352514.2(HLCS):c.2548G>A (p.Glu850Lys)
NM_001352514.2(HLCS):c.2567C>T (p.Pro856Leu)
NM_001352514.2(HLCS):c.2571C>T (p.Asp857=) rs202028605
NM_001352514.2(HLCS):c.2583C>T (p.Phe861=) rs532108774
NM_001352514.2(HLCS):c.2584G>A (p.Asp862Asn)
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln) rs147474255
NM_001352514.2(HLCS):c.2622A>G (p.Ter874=)
NM_001352514.2(HLCS):c.456C>A (p.Leu152=)
NM_001352514.2(HLCS):c.462G>A (p.Met154Ile) rs183589811
NM_001352514.2(HLCS):c.493+10T>C rs1601811088
NM_001352514.2(HLCS):c.494-13A>G rs76785742
NM_001352514.2(HLCS):c.494-7G>C
NM_001352514.2(HLCS):c.494-8T>C
NM_001352514.2(HLCS):c.494-9A>G rs376397597
NM_001352514.2(HLCS):c.495G>A (p.Ser165=)
NM_001352514.2(HLCS):c.504G>A (p.Leu168=)
NM_001352514.2(HLCS):c.508G>A (p.Asp170Asn)
NM_001352514.2(HLCS):c.513C>T (p.Ser171=)
NM_001352514.2(HLCS):c.516T>C (p.Thr172=)
NM_001352514.2(HLCS):c.519G>C (p.Leu173=) rs142669894
NM_001352514.2(HLCS):c.535C>T (p.Gln179Ter)
NM_001352514.2(HLCS):c.540C>T (p.Val180=)
NM_001352514.2(HLCS):c.567G>T (p.Glu189Asp) rs61732504
NM_001352514.2(HLCS):c.569C>T (p.Pro190Leu)
NM_001352514.2(HLCS):c.570G>A (p.Pro190=)
NM_001352514.2(HLCS):c.574C>G (p.Pro192Ala)
NM_001352514.2(HLCS):c.581C>T (p.Pro194Leu)
NM_001352514.2(HLCS):c.600T>C (p.Pro200=)
NM_001352514.2(HLCS):c.609C>T (p.Asp203=) rs370118884
NM_001352514.2(HLCS):c.664C>T (p.Gln222Ter) rs796051977
NM_001352514.2(HLCS):c.674G>A (p.Gly225Asp)
NM_001352514.2(HLCS):c.681C>T (p.Ala227=)
NM_001352514.2(HLCS):c.687G>C (p.Gly229=)
NM_001352514.2(HLCS):c.689G>A (p.Ser230Asn)
NM_001352514.2(HLCS):c.691G>T (p.Glu231Ter) rs1569218416
NM_001352514.2(HLCS):c.696T>C (p.Pro232=) rs200877859
NM_001352514.2(HLCS):c.703G>A (p.Asp235Asn)
NM_001352514.2(HLCS):c.711C>T (p.Asp237=)
NM_001352514.2(HLCS):c.723C>A (p.Gly241=) rs886057077
NM_001352514.2(HLCS):c.726C>T (p.Pro242=) rs2230182
NM_001352514.2(HLCS):c.727G>A (p.Val243Ile) rs61732502
NM_001352514.2(HLCS):c.741C>T (p.His247=)
NM_001352514.2(HLCS):c.744C>G (p.Leu248=)
NM_001352514.2(HLCS):c.759C>T (p.Cys253=)
NM_001352514.2(HLCS):c.762C>T (p.His254=)
NM_001352514.2(HLCS):c.792T>C (p.Ile264=)
NM_001352514.2(HLCS):c.804G>A (p.Lys268=)
NM_001352514.2(HLCS):c.810G>A (p.Ala270=)
NM_001352514.2(HLCS):c.816C>T (p.Ala272=) rs376665169
NM_001352514.2(HLCS):c.840C>T (p.Tyr280=) rs779907293
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile) rs149291867
NM_001352514.2(HLCS):c.885C>T (p.Pro295=)
NM_001352514.2(HLCS):c.900G>A (p.Arg300=) rs146019354
NM_001352514.2(HLCS):c.914C>T (p.Thr305Met) rs112176097
NM_001352514.2(HLCS):c.915G>A (p.Thr305=)
NM_001352514.2(HLCS):c.918A>G (p.Gly306=) rs767988985
NM_001352514.2(HLCS):c.942T>C (p.Tyr314=)
NM_001352514.2(HLCS):c.945G>T (p.Val315=)
NM_001352514.2(HLCS):c.951C>G (p.Ser317=)
NM_001352514.2(HLCS):c.951C>T (p.Ser317=) rs185480832
NM_001352514.2(HLCS):c.981C>T (p.His327=) rs773664058
NM_001352514.2(HLCS):c.988C>T (p.Arg330Trp)
NM_001352514.2(HLCS):c.989G>C (p.Arg330Pro)
NM_001352514.2(HLCS):c.996G>A (p.Val332=)
NM_001352514.2(HLCS):c.997C>T (p.Leu333=)

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