List of variants in gene HLCS reported as likely pathogenic for classic organic aciduria

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

Total variants: 110

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HGVS	dbSNP	gnomAD frequency
NM_001352514.2(HLCS):c.1974dup (p.Val659fs)	rs767533946	0.00009
NM_001352514.2(HLCS):c.2260dup (p.Ser754fs)	rs766163167	0.00004
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter)	rs146448211	0.00004
NM_001352514.2(HLCS):c.1960+5G>A	rs753887925	0.00003
NM_001352514.2(HLCS):c.2121+1G>A	rs1175936807	0.00003
NM_001352514.2(HLCS):c.1529T>A (p.Val510Asp)	rs769499327	0.00002
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys)	rs781603756	0.00002
NM_001352514.2(HLCS):c.1985G>A (p.Ser662Asn)	rs773398782	0.00002
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn)	rs119103228	0.00002
NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg)	rs28934602	0.00001
NM_001352514.2(HLCS):c.1621-2A>G	rs750728042	0.00001
NM_001352514.2(HLCS):c.1850T>C (p.Leu617Ser)	rs1261821166	0.00001
NM_001352514.2(HLCS):c.2527C>T (p.Gln843Ter)	rs1466111134	0.00001
NM_001352514.2(HLCS):c.2567C>T (p.Pro856Leu)	rs1260631800	0.00001
NM_001352514.2(HLCS):c.2585A>C (p.Asp862Ala)	rs752737867	0.00001
NM_001352514.2(HLCS):c.712_713del (p.Arg238fs)	rs1284747916	0.00001
NC_000021.8:g.(?_38126547)_(38139606_?)del
NM_000411.8(HLCS):c.1681dup
NM_001352514.2(HLCS):c.1016_1017del (p.Ile339fs)
NM_001352514.2(HLCS):c.1041del (p.Leu348fs)
NM_001352514.2(HLCS):c.1045G>T (p.Glu349Ter)	rs148324626
NM_001352514.2(HLCS):c.1045del (p.Glu349fs)
NM_001352514.2(HLCS):c.1063_1064del (p.Asp355fs)
NM_001352514.2(HLCS):c.1083T>A (p.Cys361Ter)
NM_001352514.2(HLCS):c.1132C>T (p.Gln378Ter)	rs1481968221
NM_001352514.2(HLCS):c.1133del (p.Gln378fs)
NM_001352514.2(HLCS):c.1151T>C (p.Leu384Pro)	rs119103227
NM_001352514.2(HLCS):c.1151T>G (p.Leu384Arg)	rs119103227
NM_001352514.2(HLCS):c.1163G>C (p.Gly388Ala)	rs1057516035
NM_001352514.2(HLCS):c.1219_1222dup (p.Gly408fs)
NM_001352514.2(HLCS):c.1223dup (p.Ala409fs)
NM_001352514.2(HLCS):c.1250T>A (p.Leu417Ter)	rs2066894484
NM_001352514.2(HLCS):c.1275_1283delinsTGAGCACT (p.Val427fs)
NM_001352514.2(HLCS):c.1276G>T (p.Glu426Ter)
NM_001352514.2(HLCS):c.1289del (p.Ser430fs)
NM_001352514.2(HLCS):c.1302_1303insC (p.Gly435fs)
NM_001352514.2(HLCS):c.1315del (p.Gln439fs)
NM_001352514.2(HLCS):c.1326del (p.Val443fs)
NM_001352514.2(HLCS):c.1351C>T (p.Gln451Ter)
NM_001352514.2(HLCS):c.1358_1359del (p.His453fs)
NM_001352514.2(HLCS):c.1404del (p.Phe468fs)
NM_001352514.2(HLCS):c.1418dup (p.Glu474fs)	rs1555955827
NM_001352514.2(HLCS):c.1434C>A (p.Cys478Ter)	rs2066882139
NM_001352514.2(HLCS):c.1437+1G>A
NM_001352514.2(HLCS):c.1439T>A (p.Val480Glu)	rs1198548955
NM_001352514.2(HLCS):c.1466_1472delinsGCA (p.Asn489fs)
NM_001352514.2(HLCS):c.1524C>G (p.Tyr508Ter)
NM_001352514.2(HLCS):c.1550_1551insT (p.Leu518fs)
NM_001352514.2(HLCS):c.1576C>T (p.Gln526Ter)	rs1393866282
NM_001352514.2(HLCS):c.1600_1604del (p.Tyr534fs)
NM_001352514.2(HLCS):c.1610C>A (p.Ser537Ter)
NM_001352514.2(HLCS):c.1610C>G (p.Ser537Ter)
NM_001352514.2(HLCS):c.1620+1G>A	rs1555951858
NM_001352514.2(HLCS):c.1621-1G>C	rs1164174059
NM_001352514.2(HLCS):c.1621-2A>T
NM_001352514.2(HLCS):c.1631del (p.Asp544fs)
NM_001352514.2(HLCS):c.1642C>T (p.Gln548Ter)	rs2065045000
NM_001352514.2(HLCS):c.1646G>A (p.Trp549Ter)	rs1342457304
NM_001352514.2(HLCS):c.1658_1659del (p.His553fs)
NM_001352514.2(HLCS):c.1699_1700del (p.Ser566_Leu567insTer)	rs1555930523
NM_001352514.2(HLCS):c.1705_1733dup (p.Glu578delinsAspLeuPheHisProThrCysLeuLysTer)
NM_001352514.2(HLCS):c.1719C>A (p.Tyr573Ter)	rs148814769
NM_001352514.2(HLCS):c.1752_1759delinsTTT (p.Pro585fs)
NM_001352514.2(HLCS):c.1759_1760insCC (p.Val587fs)
NM_001352514.2(HLCS):c.1771G>T (p.Glu591Ter)	rs2065038117
NM_001352514.2(HLCS):c.1781C>G (p.Ser594Ter)	rs973578825
NM_001352514.2(HLCS):c.1858_1868del (p.Glu620fs)
NM_001352514.2(HLCS):c.1869del (p.Thr624fs)	rs2065031709
NM_001352514.2(HLCS):c.1892+1G>A
NM_001352514.2(HLCS):c.1902_1903del (p.Phe634fs)
NM_001352514.2(HLCS):c.1942del (p.Arg648fs)
NM_001352514.2(HLCS):c.1957A>T (p.Lys653Ter)	rs2090069178
NM_001352514.2(HLCS):c.1960+1G>A	rs2090068896
NM_001352514.2(HLCS):c.1961-2A>G
NM_001352514.2(HLCS):c.1974T>A (p.Asn658Lys)
NM_001352514.2(HLCS):c.2044G>T (p.Gly682Ter)	rs1324486146
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met)	rs119103231
NM_001352514.2(HLCS):c.2092del (p.Glu698fs)
NM_001352514.2(HLCS):c.2114_2121+5del
NM_001352514.2(HLCS):c.2185G>A (p.Gly729Arg)
NM_001352514.2(HLCS):c.2201C>G (p.Ser734Ter)	rs2089755918
NM_001352514.2(HLCS):c.2237-2A>G
NM_001352514.2(HLCS):c.2237-56_2255del	rs2145732111
NM_001352514.2(HLCS):c.2280dup (p.Asn761fs)	rs1555882068
NM_001352514.2(HLCS):c.2341G>T (p.Asp781Tyr)
NM_001352514.2(HLCS):c.2450+2T>A
NM_001352514.2(HLCS):c.331-1G>C
NM_001352514.2(HLCS):c.476dup (p.Pro160fs)
NM_001352514.2(HLCS):c.494-1G>A
NM_001352514.2(HLCS):c.494-2A>T
NM_001352514.2(HLCS):c.513dup (p.Thr172fs)
NM_001352514.2(HLCS):c.542C>A (p.Ser181Ter)	rs2066942076
NM_001352514.2(HLCS):c.569_585delinsTTGCTTGAGATTAAGCCTGAGATTAAGG (p.Pro190_Ser195delinsLeuAlaTer)	rs1064796014
NM_001352514.2(HLCS):c.616del (p.Glu206fs)
NM_001352514.2(HLCS):c.664_667del (p.Gln222fs)	rs776431253
NM_001352514.2(HLCS):c.687del (p.Ser230fs)
NM_001352514.2(HLCS):c.726dup (p.Val243fs)
NM_001352514.2(HLCS):c.759C>A (p.Cys253Ter)
NM_001352514.2(HLCS):c.774_775insTGTTCTCGGCAGACGCAAA (p.Leu259fs)
NM_001352514.2(HLCS):c.794_795del (p.Glu265fs)
NM_001352514.2(HLCS):c.821_822insTTCCATTG (p.Ile275fs)
NM_001352514.2(HLCS):c.840C>A (p.Tyr280Ter)	rs779907293
NM_001352514.2(HLCS):c.857T>A (p.Leu286Ter)	rs144572349
NM_001352514.2(HLCS):c.857del (p.Leu286fs)
NM_001352514.2(HLCS):c.863del (p.Ser288fs)	rs1015594025
NM_001352514.2(HLCS):c.886G>T (p.Glu296Ter)	rs760029192
NM_001352514.2(HLCS):c.929del (p.Asn310fs)
NM_001352514.2(HLCS):c.958del (p.Gln320fs)
NM_001352514.2(HLCS):c.958dup (p.Gln320fs)
NM_001352514.2(HLCS):c.978_979insTGTCTCTTATACACAT (p.His327fs)

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