ClinVar Miner

List of variants studied for Pyruvate dehydrogenase E1-beta deficiency by Genome-Nilou Lab

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000925.4(PDHB):c.435A>G (p.Arg145=) rs4264746 0.98352
NM_000925.4(PDHB):c.267+42G>A rs62259772 0.30062
NM_000925.4(PDHB):c.438G>A (p.Gly146=) rs1126551 0.30058
NM_000925.4(PDHB):c.-4C>T rs778465584 0.00007
NM_000925.4(PDHB):c.45C>G (p.Val15=) rs747916943 0.00001
NM_000925.4(PDHB):c.582C>G (p.Asn194Lys) rs994015584 0.00001
NM_000925.4(PDHB):c.836T>C (p.Ile279Thr) rs1392622459

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