ClinVar Miner

List of variants reported as not provided for inborn disorder of amino acid and other organic acid metabolism by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (322):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly) rs1169305 0.98610
NM_175914.5(HNF4A):c.669A>G (p.Leu223=) rs139591750 0.00425
NM_000545.8(HNF1A):c.252C>T (p.Pro84=) rs78772552 0.00215
NM_175914.5(HNF4A):c.439G>A (p.Val147Ile) rs142204928 0.00025
NM_000545.8(HNF1A):c.1747C>G (p.Arg583Gly) rs137853239
NM_000545.8(HNF1A):c.1854C>G (p.Ile618Met) rs193922591

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