List of variants reported as likely pathogenic for Deficiency of hydroxymethylglutaryl-CoA lyase by Invitae

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000191.3(HMGCL):c.493C>T (p.Arg165Trp)	rs764039230	0.00002
NM_000191.3(HMGCL):c.144+1G>A	rs1638698732	0.00001
NC_000001.10:g.(?_24137216)_(24140838_?)del
NM_000191.3(HMGCL):c.125A>G (p.Asp42Gly)
NM_000191.3(HMGCL):c.144+2T>C	rs1001955490
NM_000191.3(HMGCL):c.145-1G>C
NM_000191.3(HMGCL):c.252+1G>A	rs775218067
NM_000191.3(HMGCL):c.252+1G>C
NM_000191.3(HMGCL):c.348+1G>A	rs1322650779
NM_000191.3(HMGCL):c.48_60+289del
NM_000191.3(HMGCL):c.497+1G>A
NM_000191.3(HMGCL):c.561+1G>T
NM_000191.3(HMGCL):c.562-1G>A
NM_000191.3(HMGCL):c.562-2A>G	rs1553131955
NM_000191.3(HMGCL):c.60+1G>C
NM_000191.3(HMGCL):c.61-1G>C	rs1638701269
NM_000191.3(HMGCL):c.750+2T>C

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