ClinVar Miner

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

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_002547.3(OPHN1):c.1201+3A>G rs1482683297 0.00001
NM_002547.3(OPHN1):c.1489C>T (p.Arg497Ter) rs1569215382
NM_002547.3(OPHN1):c.1714G>C (p.Ala572Pro)
NM_002547.3(OPHN1):c.1889C>A (p.Pro630His) rs866834118
NM_002547.3(OPHN1):c.598-1G>C
NM_002547.3(OPHN1):c.833G>C (p.Trp278Ser)

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