List of variants reported as likely pathogenic by Department of Pediatrics, National Cheng-Kung University Hospital

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_176824.3(BBS7):c.849+1G>C	rs763719688	0.00001
NM_001286577.2(C2CD3):c.1730G>A (p.Arg577His)
NM_001286577.2(C2CD3):c.2720A>G (p.Tyr907Cys)
NM_001378454.1(ALMS1):c.10287_10288del (p.Lys3430fs)	rs1553417044
NM_001378454.1(ALMS1):c.7969_7975del (p.Phe2657fs)
NM_003611.3(OFD1):c.1972A>T (p.Lys658Ter)
NM_176824.3(BBS7):c.1685_1686del (p.Glu562fs)

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