List of variants reported as uncertain significance for X-linked intellectual disability-cerebellar hypoplasia syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_002547.3(OPHN1):c.1613A>G (p.Asp538Gly)	rs141368794	0.00006
NM_002547.3(OPHN1):c.2363G>A (p.Arg788Gln)	rs192628082	0.00006
NM_002547.3(OPHN1):c.2132C>T (p.Pro711Leu)	rs1030545345	0.00002
NM_002547.3(OPHN1):c.2158+1G>T

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