List of variants studied for X-linked intellectual disability-cerebellar hypoplasia syndrome by OMIM

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NG_008960.1:g.224486-?_245539+?del
NG_008960.1:g.337629_355297del
NM_002547.3(OPHN1):c.1579del (p.Ile527fs)	rs1569211016
NM_002547.3(OPHN1):c.184C>T (p.Gln62Ter)	rs137854493
NM_002547.3(OPHN1):c.644_645del (p.Val215fs)	rs1569244467
NM_002547.3(OPHN1):c.745_752dup (p.Lys251fs)	rs1569243931

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