ClinVar Miner

List of variants in gene combination GAREM2, HADHA reported as likely pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000182.5(HADHA):c.1690-2A>G rs1057516217 0.00001
NM_000182.5(HADHA):c.1633_1636delinsGGAAGGTCCTGG (p.Phe545fs)
NM_000182.5(HADHA):c.1759_1760del (p.Leu587fs)
NM_000182.5(HADHA):c.1811del (p.Gly604fs) rs747985669
NM_000182.5(HADHA):c.1844del (p.Asn615fs) rs1669575714
NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs) rs749848370
NM_000182.5(HADHA):c.2225_2228dup (p.Phe744fs) rs868816467

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