List of variants reported as likely pathogenic for intellectual disability, X-linked 49

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001830.4(CLCN4):c.1202T>C (p.Leu401Pro)	rs1924450715
NM_001830.4(CLCN4):c.1399G>A (p.Gly467Ser)	rs1602159841
NM_001830.4(CLCN4):c.1576G>A (p.Gly526Ser)	rs1555976973
NM_001830.4(CLCN4):c.1622A>T (p.Glu541Val)
NM_001830.4(CLCN4):c.1646T>C (p.Ile549Thr)	rs1924631837
NM_001830.4(CLCN4):c.1987_1990del (p.Gln663fs)
NM_001830.4(CLCN4):c.373del (p.Asp125fs)	rs1924061524
NM_001830.4(CLCN4):c.608C>T (p.Thr203Ile)
NM_001830.4(CLCN4):c.740dup (p.Asn248fs)	rs2147178526
NM_001830.4(CLCN4):c.832del (p.Ser278fs)	rs1924399093
NM_001830.4(CLCN4):c.835C>G (p.Leu279Val)
NM_001830.4(CLCN4):c.840A>T (p.Glu280Asp)
NM_001830.4(CLCN4):c.944G>A (p.Arg315His)	rs1374813094
NM_001830.4(CLCN4):c.949G>A (p.Val317Ile)	rs1064796023

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