ClinVar Miner

List of variants studied for mitochondrial trifunctional protein deficiency 2 by Revvity Omics, Revvity

Included ClinVar conditions (1):
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000183.3(HADHB):c.584G>A (p.Arg195Gln) rs764507324 0.00007
NM_000183.3(HADHB):c.1252A>G (p.Asn418Asp)
NM_000183.3(HADHB):c.1399A>C (p.Met467Leu)
NM_000183.3(HADHB):c.527C>G (p.Ser176Ter) rs951478194
NM_000183.3(HADHB):c.685C>T (p.Arg229Ter) rs759136382

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