List of variants reported as pathogenic for Septo-optic dysplasia sequence

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
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.478C>T (p.Arg160Cys)	rs28936702	0.00001
NM_000193.4(SHH):c.562+1G>A
NM_003106.4(SOX2):c.70_89del (p.Asn24fs)	rs398123693
NM_003865.3(HESX1):c.305_306dup (p.Leu103fs)	rs748460226
NM_003865.3(HESX1):c.525del (p.Asn178fs)
NM_006015.6(ARID1A):c.6625C>T (p.Gln2209Ter)

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