ClinVar Miner

List of variants reported for Septo-optic dysplasia sequence by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_003865.3(HESX1):c.385G>A (p.Val129Ile) rs143057250 0.00064
NM_003865.3(HESX1):c.240del (p.Glu81fs) rs777833871 0.00001
NM_003865.3(HESX1):c.308T>A (p.Leu103Ter) rs777223697 0.00001
NM_003865.3(HESX1):c.313T>G (p.Trp105Gly) rs754137696 0.00001
NM_003865.3(HESX1):c.200G>A (p.Ser67Asn) rs141863326

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