ClinVar Miner

List of variants in gene HADHB reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000183.3(HADHB):c.110-2351G>T rs138809384 0.00239
NM_000183.3(HADHB):c.246A>G (p.Ala82=) rs151302743 0.00070
NM_000183.3(HADHB):c.900C>T (p.Tyr300=) rs144093705 0.00065
NM_000183.3(HADHB):c.397A>G (p.Thr133Ala) rs371159065 0.00006
NM_000183.3(HADHB):c.589T>C (p.Ser197Pro) rs142475516 0.00002
NM_000183.3(HADHB):c.111T>C (p.Ala37=) rs1574650470
NM_000183.3(HADHB):c.1154A>C (p.Gln385Pro) rs1574669267
NM_000183.3(HADHB):c.154A>T (p.Arg52Trp)
NM_000183.3(HADHB):c.446T>C (p.Val149Ala)
NM_000183.3(HADHB):c.487G>A (p.Gly163Ser) rs1574662730
NM_000183.3(HADHB):c.563dup (p.Ala189fs) rs1064797251
NM_000183.3(HADHB):c.721C>G (p.Gln241Glu) rs1574663511
NM_000183.3(HADHB):c.907G>A (p.Val303Met)

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