List of variants reported as pathogenic for CADDS

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 Xq28(chrX:152980470-153032459)
NC_000023.11:g.153696346_153701690del
NC_000023.11:g.153714363_153781647del
NM_001256447.2(BCAP31):c.-44-270C>A	rs1057518721
NM_001256447.2(BCAP31):c.194-2A>G	rs879255569
NM_001256447.2(BCAP31):c.365_366del (p.Leu122fs)	rs1557047954
NM_001256447.2(BCAP31):c.415C>T (p.Gln139Ter)	rs1603223001
NM_001256447.2(BCAP31):c.97C>T (p.Gln33Ter)	rs397515620

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