List of variants in gene HMGCL reported as benign for classic organic aciduria

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000191.3(HMGCL):c.252+34T>C	rs2076344	0.92735
NM_000191.3(HMGCL):c.654A>G (p.Leu218=)	rs719400	0.92712
NM_000191.3(HMGCL):c.877-72T>C	rs2076343	0.27156
NM_000191.3(HMGCL):c.48G>A (p.Ala16=)	rs115611440	0.00769
NM_000191.3(HMGCL):c.61-17C>T	rs56913973	0.00337
NM_000191.3(HMGCL):c.393A>G (p.Ser131=)	rs56218308	0.00290
NM_000191.3(HMGCL):c.497+19G>A	rs187735179	0.00172
NM_000191.3(HMGCL):c.443A>G (p.Gln148Arg)	rs192833530	0.00043
NM_000191.3(HMGCL):c.876+18C>T	rs200098567	0.00015
NM_000191.3(HMGCL):c.375C>T (p.Val125=)	rs139102957	0.00009
NM_000191.3(HMGCL):c.594C>T (p.Tyr198=)	rs139799938	0.00006
NM_000191.3(HMGCL):c.454G>A (p.Ala152Thr)	rs146306707	0.00005
NM_000191.3(HMGCL):c.-91G>T	rs6697805
NM_000191.3(HMGCL):c.876+18del

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