ClinVar Miner

List of variants studied for 3-hydroxy-3-methylglutaric aciduria by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000191.3(HMGCL):c.654A>G (p.Leu218=) rs719400 0.92712
NM_000191.3(HMGCL):c.*486G>A rs11714 0.91585
NM_001008216.2(GALE):c.-77+311C>T rs113324056 0.03995
NM_000191.2(HMGCL):c.-59A>C rs188188846 0.00929
NM_000191.3(HMGCL):c.48G>A (p.Ala16=) rs115611440 0.00769
NM_000191.3(HMGCL):c.*194C>G rs192071003 0.00530
NM_000191.3(HMGCL):c.*104G>A rs552915017 0.00185
NM_000191.3(HMGCL):c.443A>G (p.Gln148Arg) rs192833530 0.00043
NM_000191.3(HMGCL):c.*338G>C rs988536831 0.00018
NM_000191.3(HMGCL):c.340G>A (p.Glu114Lys) rs200955062 0.00011
NM_000191.3(HMGCL):c.56G>C (p.Arg19Pro) rs377359610 0.00011
NM_000191.3(HMGCL):c.*289G>T rs369514739 0.00008
NM_000191.3(HMGCL):c.*414G>A rs886046310 0.00006
NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter) rs763494292 0.00006
NM_000191.3(HMGCL):c.594C>T (p.Tyr198=) rs139799938 0.00006
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer) rs779339230 0.00006
NM_000191.3(HMGCL):c.454G>A (p.Ala152Thr) rs146306707 0.00005
NM_000191.3(HMGCL):c.720A>G (p.Gln240=) rs911190800 0.00005
NM_000191.3(HMGCL):c.349-3C>A rs777476731 0.00003
NM_000191.2(HMGCL):c.-41G>C rs886046315 0.00002
NM_000191.3(HMGCL):c.*366G>A rs1470010250 0.00002
NM_000191.3(HMGCL):c.734C>T (p.Thr245Ile) rs761468576 0.00002
NM_000191.3(HMGCL):c.828G>A (p.Leu276=) rs771024022 0.00002
NM_000191.3(HMGCL):c.*388G>A rs145874467 0.00001
NM_000191.3(HMGCL):c.501C>T (p.Tyr167=) rs200189529 0.00001
NM_000191.3(HMGCL):c.787C>A (p.Leu263Ile) rs1025294353 0.00001
NM_000191.3(HMGCL):c.*290T>C rs886046311
NM_000191.3(HMGCL):c.173A>G (p.Lys58Arg) rs1638633961
NM_000191.3(HMGCL):c.254T>C (p.Met85Thr) rs886046314
NM_000191.3(HMGCL):c.497+3G>A rs763178392
NM_000191.3(HMGCL):c.630C>T (p.Thr210=) rs886046313
NM_000191.3(HMGCL):c.708C>T (p.Asp236=) rs886046312
NM_000191.3(HMGCL):c.750+14T>A rs778868742
NM_000191.3(HMGCL):c.933C>G (p.Asn311Lys) rs1194563406

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