ClinVar Miner

List of variants in gene HMGCL reported as pathogenic for 3-hydroxy-3-methylglutaric aciduria

Included ClinVar conditions (1):
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Total variants: 12
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HGVS dbSNP
HMGCL, 930-BP DEL, EX3-6DEL
NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter) rs763494292
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln) rs121964997
NM_000191.3(HMGCL):c.202_203CT[2] (p.Ser69fs) rs752137615
NM_000191.3(HMGCL):c.208G>C (p.Val70Leu) rs121964996
NM_000191.3(HMGCL):c.27del (p.Arg10fs) rs1409716731
NM_000191.3(HMGCL):c.31C>T (p.Arg11Ter) rs1212444447
NM_000191.3(HMGCL):c.499T>A (p.Tyr167Asn) rs1553132209
NM_000191.3(HMGCL):c.503_504TC[1] (p.Ser169fs) rs764264834
NM_000191.3(HMGCL):c.698A>G (p.His233Arg) rs727503963
NM_000191.3(HMGCL):c.835G>A (p.Glu279Lys) rs121964998
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs) rs786205431

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