List of variants reported as likely benign 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_000191.2(HMGCL):c.-59A>C	rs188188846	0.00929
NM_000191.3(HMGCL):c.*194C>G	rs192071003	0.00530
NM_000191.3(HMGCL):c.61-17C>T	rs56913973	0.00337
NM_000191.3(HMGCL):c.443A>G (p.Gln148Arg)	rs192833530	0.00043
NM_000191.3(HMGCL):c.604C>T (p.Leu202=)	rs146602259	0.00029
NM_000191.3(HMGCL):c.145-8C>T	rs369286537	0.00016
NM_000191.3(HMGCL):c.375C>T (p.Val125=)	rs139102957	0.00009
NM_000191.3(HMGCL):c.498-10C>A	rs373505626	0.00009
NM_000191.3(HMGCL):c.145-13C>T	rs762224192	0.00004
NM_000191.3(HMGCL):c.345A>C (p.Ala115=)	rs761706911	0.00001
NM_000191.3(HMGCL):c.84T>C (p.Thr28=)	rs752969194	0.00001

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