ClinVar Miner

List of variants studied for Holocarboxylase synthetase deficiency by Baylor Genetics

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Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_001352514.2(HLCS):c.1843G>C (p.Val615Leu) rs376210604 0.00014
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.1963C>T (p.Arg655Trp) rs119103229 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.2134C>T (p.Arg712Ter) rs772791252 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.1096dup (p.Ile366fs) rs773102942 0.00001
NM_001352514.2(HLCS):c.1621-2A>G rs750728042 0.00001
NM_001352514.2(HLCS):c.2182G>A (p.Gly728Ser) rs119103230 0.00001
NM_001352514.2(HLCS):c.2451-1G>A rs1158898827 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_000411.8(HLCS):c.1681dup
NM_001352514.2(HLCS):c.1045G>T (p.Glu349Ter) rs148324626
NM_001352514.2(HLCS):c.1063_1064del (p.Asp355fs)
NM_001352514.2(HLCS):c.1083T>A (p.Cys361Ter)
NM_001352514.2(HLCS):c.1133del (p.Gln378fs)
NM_001352514.2(HLCS):c.1151T>C (p.Leu384Pro) rs119103227
NM_001352514.2(HLCS):c.1219_1222dup (p.Gly408fs)
NM_001352514.2(HLCS):c.1223del (p.Gly408fs) rs771944310
NM_001352514.2(HLCS):c.1223dup (p.Ala409fs)
NM_001352514.2(HLCS):c.1289del (p.Ser430fs)
NM_001352514.2(HLCS):c.1326del (p.Val443fs)
NM_001352514.2(HLCS):c.1434C>A (p.Cys478Ter) rs2066882139
NM_001352514.2(HLCS):c.1438-1G>C
NM_001352514.2(HLCS):c.1543del (p.Ile514_Leu515insTer) rs1288789420
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.1631del (p.Asp544fs)
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.1769dup (p.Met590fs)
NM_001352514.2(HLCS):c.1869del (p.Thr624fs) rs2065031709
NM_001352514.2(HLCS):c.1892+1G>A
NM_001352514.2(HLCS):c.1954G>C (p.Gly652Arg) rs1555885056
NM_001352514.2(HLCS):c.1961-2A>G
NM_001352514.2(HLCS):c.1974T>A (p.Asn658Lys)
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met) rs119103231
NM_001352514.2(HLCS):c.2144G>A (p.Trp715Ter) rs1174060268
NM_001352514.2(HLCS):c.2185G>A (p.Gly729Arg)
NM_001352514.2(HLCS):c.2224del (p.Tyr742fs)
NM_001352514.2(HLCS):c.2237-2A>G
NM_001352514.2(HLCS):c.2341G>T (p.Asp781Tyr)
NM_001352514.2(HLCS):c.2450+2T>A
NM_001352514.2(HLCS):c.2451-2A>G
NM_001352514.2(HLCS):c.331-1G>C
NM_001352514.2(HLCS):c.476dup (p.Pro160fs)
NM_001352514.2(HLCS):c.493+2T>C
NM_001352514.2(HLCS):c.494-1G>A
NM_001352514.2(HLCS):c.513dup (p.Thr172fs)
NM_001352514.2(HLCS):c.664C>T (p.Gln222Ter) rs1555957134
NM_001352514.2(HLCS):c.664_667del (p.Gln222fs) rs776431253
NM_001352514.2(HLCS):c.726dup (p.Val243fs)
NM_001352514.2(HLCS):c.727del (p.Val243fs) rs2146528200
NM_001352514.2(HLCS):c.749del (p.Leu250fs)
NM_001352514.2(HLCS):c.857del (p.Leu286fs)
NM_001352514.2(HLCS):c.863del (p.Ser288fs) rs1015594025
NM_001352514.2(HLCS):c.929del (p.Asn310fs)
NM_001352514.2(HLCS):c.958del (p.Gln320fs)

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