ClinVar Miner

List of variants studied for Septo-optic dysplasia sequence by OMIM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_003865.3(HESX1):c.478C>T (p.Arg160Cys) rs28936702 0.00001
NM_003865.3(HESX1):c.305_306dup (p.Leu103fs) rs748460226
NM_003865.3(HESX1):c.525del (p.Asn178fs)

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