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

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_003865.3(HESX1):c.475C>T (p.Arg159Trp)	rs770886420	0.00004
GRCh37/hg19 Xq28(chrX:153560562-153864851)x3
NM_003865.3(HESX1):c.349C>T (p.Gln117Ter)
NM_003865.3(HESX1):c.3G>A (p.Met1Ile)	rs2107566038
NM_020336.4(RALGAPB):c.2324G>T (p.Arg775Leu)	rs758022116

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