ClinVar Miner

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

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HLCS, 1-BP DEL, 780G
NM_000411.8(HLCS):c.1055T>A (p.Leu352Ter)
NM_000411.8(HLCS):c.1135C>T (p.Gln379Ter) rs1393866282
NM_000411.8(HLCS):c.1519+5G>A rs753887925
NM_000411.8(HLCS):c.1522C>T (p.Arg508Trp) rs119103229
NM_000411.8(HLCS):c.1533dup (p.Val512fs) rs767533946
NM_000411.8(HLCS):c.1648G>A (p.Val550Met) rs119103231
NM_000411.8(HLCS):c.1693C>T (p.Arg565Ter) rs772791252
NM_000411.8(HLCS):c.1711G>A (p.Asp571Asn) rs119103228
NM_000411.8(HLCS):c.1741G>A (p.Gly581Ser) rs119103230
NM_000411.8(HLCS):c.250G>T (p.Glu84Ter) rs1569218416
NM_000411.8(HLCS):c.584dup (p.Tyr195Ter)
NM_000411.8(HLCS):c.604G>T (p.Glu202Ter)
NM_000411.8(HLCS):c.647T>G (p.Leu216Arg) rs28934602
NM_000411.8(HLCS):c.655dup (p.Ile219fs) rs773102942
NM_000411.8(HLCS):c.710T>C (p.Leu237Pro) rs119103227
NM_000411.8(HLCS):c.782del (p.Gly261fs) rs771944310

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