List of variants reported as pathogenic for CLCN4-related disorder by Sydney Children's Hospital, SCHN

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 Xp22.2(chrX:10187807-10189796)
NM_001830.4(CLCN4):c.1389+5G>A	rs879255590
NM_001830.4(CLCN4):c.1601C>T (p.Ser534Leu)	rs879255582
NM_001830.4(CLCN4):c.1630G>C (p.Gly544Arg)	rs587777161
NM_001830.4(CLCN4):c.1664C>T (p.Ala555Val)	rs879255583
NM_001830.4(CLCN4):c.1876dup (p.Ile626fs)	rs879255586
NM_001830.4(CLCN4):c.2152C>T (p.Arg718Trp)	rs879255584
NM_001830.4(CLCN4):c.635T>G (p.Val212Gly)	rs879255580
NM_001830.4(CLCN4):c.662T>C (p.Leu221Pro)	rs879255581
NM_001830.4(CLCN4):c.823G>A (p.Val275Met)	rs879255585

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