ClinVar Miner

List of variants reported as likely pathogenic for Holocarboxylase synthetase deficiency

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Total variants: 21
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HGVS dbSNP
NM_000411.8(HLCS):c.1088T>A (p.Val363Asp) rs769499327
NM_000411.8(HLCS):c.1135C>T (p.Gln379Ter) rs1393866282
NM_000411.8(HLCS):c.1179+1G>A rs1555951858
NM_000411.8(HLCS):c.1180-2A>G rs750728042
NM_000411.8(HLCS):c.1252_1253CT[3] (p.Ser419_Leu420insTer) rs1555930523
NM_000411.8(HLCS):c.1519+5G>A rs753887925
NM_000411.8(HLCS):c.1533dup (p.Val512fs) rs767533946
NM_000411.8(HLCS):c.1544G>A (p.Ser515Asn) rs773398782
NM_000411.8(HLCS):c.1648G>A (p.Val550Met) rs119103231
NM_000411.8(HLCS):c.1680+1G>A rs1175936807
NM_000411.8(HLCS):c.1711G>A (p.Asp571Asn) rs119103228
NM_000411.8(HLCS):c.1819dup (p.Ser607fs) rs766163167
NM_000411.8(HLCS):c.1839dup (p.Asn614fs) rs1555882068
NM_000411.8(HLCS):c.1993C>T (p.Arg665Ter) rs146448211
NM_000411.8(HLCS):c.2086C>T (p.Gln696Ter) rs1466111134
NM_000411.8(HLCS):c.271_272del (p.Arg91fs) rs1284747916
NM_000411.8(HLCS):c.416T>A (p.Leu139Ter) rs144572349
NM_000411.8(HLCS):c.647T>G (p.Leu216Arg) rs28934602
NM_000411.8(HLCS):c.710T>C (p.Leu237Pro) rs119103227
NM_000411.8(HLCS):c.722G>C (p.Gly241Ala) rs1057516035
NM_000411.8(HLCS):c.977dup (p.Glu327fs) rs1555955827

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