ClinVar Miner

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

Included ClinVar conditions (39):
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Gene type:
ClinVar version:
Total variants: 78
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HGVS dbSNP
NM_000191.2(HMGCL):c.-59A>C rs188188846
NM_000191.3(HMGCL):c.*194C>G rs192071003
NM_000191.3(HMGCL):c.*289G>T rs369514739
NM_000191.3(HMGCL):c.141A>G (p.Glu47=)
NM_000191.3(HMGCL):c.145-4A>G
NM_000191.3(HMGCL):c.145-8C>T rs369286537
NM_000191.3(HMGCL):c.159T>A (p.Thr53=)
NM_000191.3(HMGCL):c.165G>A (p.Val55=)
NM_000191.3(HMGCL):c.168A>G (p.Lys56=)
NM_000191.3(HMGCL):c.177G>T (p.Leu59=)
NM_000191.3(HMGCL):c.183C>T (p.Asp61=)
NM_000191.3(HMGCL):c.21G>A (p.Ala7=)
NM_000191.3(HMGCL):c.225C>T (p.Ser75=)
NM_000191.3(HMGCL):c.24T>C (p.Leu8=)
NM_000191.3(HMGCL):c.252+10A>T
NM_000191.3(HMGCL):c.253-7T>C
NM_000191.3(HMGCL):c.27G>T (p.Pro9=)
NM_000191.3(HMGCL):c.30G>A (p.Arg10=)
NM_000191.3(HMGCL):c.324A>G (p.Pro108=)
NM_000191.3(HMGCL):c.339C>T (p.Phe113=)
NM_000191.3(HMGCL):c.33A>G (p.Arg11=)
NM_000191.3(HMGCL):c.349-10A>T rs755304948
NM_000191.3(HMGCL):c.349-8G>T
NM_000191.3(HMGCL):c.357T>A (p.Ala119=)
NM_000191.3(HMGCL):c.390C>T (p.Ala130=)
NM_000191.3(HMGCL):c.399C>T (p.Leu133=)
NM_000191.3(HMGCL):c.453C>T (p.Asp151=) rs148943423
NM_000191.3(HMGCL):c.468A>G (p.Ala156=)
NM_000191.3(HMGCL):c.471G>A (p.Ala157=) rs758118156
NM_000191.3(HMGCL):c.498-7C>T
NM_000191.3(HMGCL):c.501C>T (p.Tyr167=) rs200189529
NM_000191.3(HMGCL):c.528T>C (p.Tyr176=) rs112508527
NM_000191.3(HMGCL):c.558T>A (p.Ala186=)
NM_000191.3(HMGCL):c.561+8C>G
NM_000191.3(HMGCL):c.562-8T>C
NM_000191.3(HMGCL):c.564C>G (p.Val188=) rs779911061
NM_000191.3(HMGCL):c.60+7G>A
NM_000191.3(HMGCL):c.60+7G>T
NM_000191.3(HMGCL):c.604C>T (p.Leu202=) rs146602259
NM_000191.3(HMGCL):c.621T>G (p.Gly207=)
NM_000191.3(HMGCL):c.636G>A (p.Gly212=) rs1471029861
NM_000191.3(HMGCL):c.652C>T (p.Leu218=)
NM_000191.3(HMGCL):c.663C>G (p.Val221=) rs143884026
NM_000191.3(HMGCL):c.663C>T (p.Val221=) rs143884026
NM_000191.3(HMGCL):c.675G>A (p.Val225=) rs1266803426
NM_000191.3(HMGCL):c.687C>T (p.Ala229=)
NM_000191.3(HMGCL):c.708C>T (p.Asp236=) rs886046312
NM_000191.3(HMGCL):c.711C>T (p.Thr237=)
NM_000191.3(HMGCL):c.717T>G (p.Gly239=) rs370708710
NM_000191.3(HMGCL):c.72A>C (p.Ser24=)
NM_000191.3(HMGCL):c.72A>G (p.Ser24=)
NM_000191.3(HMGCL):c.735C>A (p.Thr245=) rs202074025
NM_000191.3(HMGCL):c.735C>G (p.Thr245=)
NM_000191.3(HMGCL):c.736T>C (p.Leu246=)
NM_000191.3(HMGCL):c.750+8A>G
NM_000191.3(HMGCL):c.759G>A (p.Val253=) rs1570642400
NM_000191.3(HMGCL):c.762T>C (p.Ser254=)
NM_000191.3(HMGCL):c.765C>A (p.Val255=)
NM_000191.3(HMGCL):c.765C>G (p.Val255=) rs778296169
NM_000191.3(HMGCL):c.765C>T (p.Val255=)
NM_000191.3(HMGCL):c.795C>T (p.Gly265=)
NM_000191.3(HMGCL):c.804C>T (p.Tyr268=) rs765198174
NM_000191.3(HMGCL):c.816A>T (p.Ala272=)
NM_000191.3(HMGCL):c.826T>C (p.Leu276=)
NM_000191.3(HMGCL):c.828G>A (p.Leu276=) rs771024022
NM_000191.3(HMGCL):c.843G>A (p.Leu281=)
NM_000191.3(HMGCL):c.846C>T (p.Val282=)
NM_000191.3(HMGCL):c.84T>C (p.Thr28=) rs752969194
NM_000191.3(HMGCL):c.858G>A (p.Glu286=) rs376715568
NM_000191.3(HMGCL):c.876+5_876+8dup
NM_000191.3(HMGCL):c.877-7C>T
NM_000191.3(HMGCL):c.882G>A (p.Val294=)
NM_000191.3(HMGCL):c.897T>A (p.Leu299=)
NM_000191.3(HMGCL):c.90A>G (p.Pro30=)
NM_000191.3(HMGCL):c.918C>T (p.Ile306=)
NM_000191.3(HMGCL):c.921T>C (p.Cys307=)
NM_000191.3(HMGCL):c.933C>T (p.Asn311=) rs1194563406
NM_000191.3(HMGCL):c.977G>A (p.Ter326=)

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