ClinVar Miner

List of variants in gene HADHB reported by Mayo Clinic Laboratories, Mayo Clinic

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000183.3(HADHB):c.565G>A (p.Ala189Thr) rs143683481 0.00028
NM_000183.3(HADHB):c.272C>T (p.Thr91Ile) rs145712438 0.00009
NM_000183.3(HADHB):c.109G>C (p.Ala37Pro) rs201078199 0.00008
NM_000183.3(HADHB):c.845G>A (p.Arg282His) rs140355426 0.00005
NM_000183.3(HADHB):c.1115A>T (p.Asp372Val) rs374840025 0.00003
NM_000183.3(HADHB):c.1280G>A (p.Gly427Glu) rs398123239 0.00002
NM_000183.3(HADHB):c.589T>C (p.Ser197Pro) rs142475516 0.00002
NM_000183.3(HADHB):c.1337G>A (p.Arg446Gln) rs368451226 0.00001
NM_000183.3(HADHB):c.608G>A (p.Arg203Gln) rs749861331 0.00001
NM_000183.3(HADHB):c.1013+6G>T rs2147829967
NM_000183.3(HADHB):c.109+4C>T rs769724590
NM_000183.3(HADHB):c.50G>T (p.Trp17Leu)

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