List of variants reported as pathogenic for autosomal recessive disease by Department of Pediatrics, National Cheng-Kung University Hospital

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_031885.5(BBS2):c.534+1G>T	rs773862084	0.00004
NM_031885.5(BBS2):c.1814C>G (p.Ser605Ter)	rs201063733	0.00001
NM_031885.5(BBS2):c.563del (p.Ile188fs)	rs1367927635	0.00001
NM_176824.3(BBS7):c.728G>A (p.Cys243Tyr)	rs727503821	0.00001
NM_001378454.1(ALMS1):c.10828_10829del (p.Arg3610fs)	rs755616266
NM_001378454.1(ALMS1):c.6166_6167dup (p.Leu2057fs)	rs759603306

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