ClinVar Miner

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

Included ClinVar conditions (39):
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Gene type:
ClinVar version:
Total variants: 71
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HGVS dbSNP
NC_000001.11:g.(?_23825336)_(23825435_?)del
NM_000191.3(HMGCL):c.*104G>A rs552915017
NM_000191.3(HMGCL):c.*290T>C rs886046311
NM_000191.3(HMGCL):c.*338G>C
NM_000191.3(HMGCL):c.*366G>A
NM_000191.3(HMGCL):c.*388G>A
NM_000191.3(HMGCL):c.*414G>A rs886046310
NM_000191.3(HMGCL):c.151G>A (p.Val51Ile)
NM_000191.3(HMGCL):c.173A>G (p.Lys58Arg)
NM_000191.3(HMGCL):c.184A>G (p.Met62Val)
NM_000191.3(HMGCL):c.208G>C (p.Val70Leu) rs121964996
NM_000191.3(HMGCL):c.218C>A (p.Thr73Asn) rs1570652345
NM_000191.3(HMGCL):c.244G>A (p.Val82Ile) rs538620811
NM_000191.3(HMGCL):c.254T>C (p.Met85Thr) rs886046314
NM_000191.3(HMGCL):c.340G>A (p.Glu114Lys)
NM_000191.3(HMGCL):c.349-3C>A
NM_000191.3(HMGCL):c.386C>G (p.Ala129Gly)
NM_000191.3(HMGCL):c.392C>T (p.Ser131Leu) rs1570650181
NM_000191.3(HMGCL):c.404C>T (p.Thr135Ile)
NM_000191.3(HMGCL):c.409A>G (p.Lys137Glu)
NM_000191.3(HMGCL):c.419A>G (p.Asn140Ser)
NM_000191.3(HMGCL):c.437G>A (p.Ser146Asn)
NM_000191.3(HMGCL):c.454G>A (p.Ala152Thr) rs146306707
NM_000191.3(HMGCL):c.470C>T (p.Ala157Val) rs147752765
NM_000191.3(HMGCL):c.493C>T (p.Arg165Trp) rs764039230
NM_000191.3(HMGCL):c.497+3G>A rs763178392
NM_000191.3(HMGCL):c.497+4A>G rs568718845
NM_000191.3(HMGCL):c.498-10C>A rs373505626
NM_000191.3(HMGCL):c.501C>T (p.Tyr167=) rs200189529
NM_000191.3(HMGCL):c.502G>A (p.Val168Ile) rs759288306
NM_000191.3(HMGCL):c.528T>C (p.Tyr176=) rs112508527
NM_000191.3(HMGCL):c.56G>C (p.Arg19Pro)
NM_000191.3(HMGCL):c.593A>G (p.Tyr198Cys)
NM_000191.3(HMGCL):c.594C>T (p.Tyr198=) rs139799938
NM_000191.3(HMGCL):c.602C>A (p.Ser201Tyr) rs760106433
NM_000191.3(HMGCL):c.608G>A (p.Gly203Glu) rs1553131940
NM_000191.3(HMGCL):c.614C>G (p.Thr205Ser)
NM_000191.3(HMGCL):c.624G>A (p.Val208=) rs747724373
NM_000191.3(HMGCL):c.629C>T (p.Thr210Ile) rs1570645382
NM_000191.3(HMGCL):c.630C>T (p.Thr210=) rs886046313
NM_000191.3(HMGCL):c.649A>G (p.Met217Val)
NM_000191.3(HMGCL):c.651G>T (p.Met217Ile)
NM_000191.3(HMGCL):c.678_686dup (p.Ala229_Ala231dup) rs1553131921
NM_000191.3(HMGCL):c.704A>G (p.His235Arg)
NM_000191.3(HMGCL):c.708C>T (p.Asp236=) rs886046312
NM_000191.3(HMGCL):c.720A>G (p.Gln240=)
NM_000191.3(HMGCL):c.734C>T (p.Thr245Ile) rs761468576
NM_000191.3(HMGCL):c.750+14T>A rs778868742
NM_000191.3(HMGCL):c.751-10_751-9del
NM_000191.3(HMGCL):c.751-3T>C
NM_000191.3(HMGCL):c.765C>T (p.Val255=)
NM_000191.3(HMGCL):c.766G>A (p.Val256Met)
NM_000191.3(HMGCL):c.76A>G (p.Met26Val)
NM_000191.3(HMGCL):c.76A>T (p.Met26Leu)
NM_000191.3(HMGCL):c.787C>A (p.Leu263Ile)
NM_000191.3(HMGCL):c.796T>C (p.Cys266Arg) rs757884073
NM_000191.3(HMGCL):c.800C>A (p.Pro267His) rs750347526
NM_000191.3(HMGCL):c.814G>T (p.Ala272Ser)
NM_000191.3(HMGCL):c.825C>G (p.Asn275Lys) rs1287973337
NM_000191.3(HMGCL):c.828G>A (p.Leu276=) rs771024022
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer) rs779339230
NM_000191.3(HMGCL):c.89C>T (p.Pro30Leu)
NM_000191.3(HMGCL):c.8C>T (p.Ala3Val)
NM_000191.3(HMGCL):c.933C>G (p.Asn311Lys)
NM_000191.3(HMGCL):c.945C>G (p.Ser315Arg) rs1557484629
NM_000191.3(HMGCL):c.94C>T (p.Arg32Trp)
NM_000191.3(HMGCL):c.950A>G (p.Lys317Arg)
NM_000191.3(HMGCL):c.958C>T (p.Gln320Ter) rs1553131326
NM_000191.3(HMGCL):c.976T>C (p.Ter326Arg) rs1553131320
NM_000191.3(HMGCL):c.977G>C (p.Ter326Ser) rs1303767209
NM_001166059.1(HMGCL):c.-41G>C rs886046315

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