List of variants reported as pathogenic for autosomal recessive disease by Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.2988+1G>A	rs75096551	0.00030
NM_000083.3(CLCN1):c.1925C>G (p.Ser642Ter)	rs1803112361
NM_024685.4(BBS10):c.728_731del (p.Lys243fs)	rs786204671
NM_138694.4(PKHD1):c.1880T>A (p.Met627Lys)	rs786204696

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