List of variants reported as pathogenic for Deficiency of hydroxymethylglutaryl-CoA lyase by Genome-Nilou Lab

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter)	rs763494292	0.00006
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln)	rs121964997	0.00004
NM_000191.3(HMGCL):c.27del (p.Arg10fs)	rs1409716731	0.00002
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter)	rs770225915	0.00001
NM_000191.3(HMGCL):c.31C>T (p.Arg11Ter)	rs1212444447	0.00001
NM_000191.3(HMGCL):c.602C>A (p.Ser201Tyr)	rs760106433	0.00001
NM_000191.3(HMGCL):c.206_207del (p.Ser69fs)	rs752137615
NM_000191.3(HMGCL):c.286C>T (p.Gln96Ter)	rs890995574
NM_000191.3(HMGCL):c.505_506del (p.Ser169fs)	rs764264834
NM_000191.3(HMGCL):c.876+1G>C	rs779802353
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs)	rs786205431

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