List of variants in gene CLCN4 reported as pathogenic for syndromic intellectual disability

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001830.4(CLCN4):c.112G>T (p.Glu38Ter)	rs2147167432
NM_001830.4(CLCN4):c.1606G>A (p.Val536Met)	rs1569231897
NM_001830.4(CLCN4):c.1630G>A (p.Gly544Arg)	rs587777161
NM_001830.4(CLCN4):c.1631G>A (p.Gly544Glu)
NM_001830.4(CLCN4):c.1664C>T (p.Ala555Val)	rs879255583
NM_001830.4(CLCN4):c.2152C>T (p.Arg718Trp)	rs879255584
NM_001830.4(CLCN4):c.2191G>C (p.Gly731Arg)	rs1569233549
NM_001830.4(CLCN4):c.232G>A (p.Gly78Ser)	rs1569226551
NM_001830.4(CLCN4):c.43_55del (p.Asp15fs)	rs1923775114
NM_001830.4(CLCN4):c.661C>G (p.Leu221Val)	rs1569230006
NM_001830.4(CLCN4):c.875G>A (p.Trp292Ter)	rs2147179499
NM_001830.4(CLCN4):c.925_928del (p.Asn309fs)
NM_001830.4(CLCN4):c.949G>A (p.Val317Ile)	rs1064796023
NM_001830.4(CLCN4):c.980G>A (p.Trp327Ter)

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