ClinVar Miner

List of variants studied for 3-hydroxy-3-methylglutaric aciduria by Invitae

Included ClinVar conditions (1):
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Total variants: 15
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HGVS dbSNP
NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter) rs763494292
NM_000191.3(HMGCL):c.145-8C>T rs369286537
NM_000191.3(HMGCL):c.218C>A (p.Thr73Asn)
NM_000191.3(HMGCL):c.393A>G (p.Ser131=) rs56218308
NM_000191.3(HMGCL):c.470C>T (p.Ala157Val)
NM_000191.3(HMGCL):c.48G>A (p.Ala16=) rs115611440
NM_000191.3(HMGCL):c.498-10C>A rs373505626
NM_000191.3(HMGCL):c.502G>A (p.Val168Ile)
NM_000191.3(HMGCL):c.624G>A (p.Val208=)
NM_000191.3(HMGCL):c.629C>T (p.Thr210Ile)
NM_000191.3(HMGCL):c.663C>T (p.Val221=) rs143884026
NM_000191.3(HMGCL):c.698A>G (p.His233Arg) rs727503963
NM_000191.3(HMGCL):c.800C>A (p.Pro267His)
NM_000191.3(HMGCL):c.933C>T (p.Asn311=) rs1194563406
NM_000191.3(HMGCL):c.945C>G (p.Ser315Arg) rs1557484629

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