ClinVar Miner

List of variants studied for AMED syndrome, digenic

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000690.4(ALDH2):c.1510G>A (p.Glu504Lys) rs671 0.00596
NM_000671.4(ADH5):c.832G>C (p.Ala278Pro) rs754853545 0.00002
NM_000671.4(ADH5):c.564+1G>A rs1727938145
NM_000671.4(ADH5):c.938_943del (p.Thr313_Trp314del)
NM_000671.4(ADH5):c.966del (p.Gly321_Trp322insTer) rs748162259

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