List of variants reported as likely benign for ciliopathy by Pars Genome Lab

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001369.3(DNAH5):c.1537-102T>A	rs67065537	0.24742
NM_001369.3(DNAH5):c.5271+72C>T	rs16902837	0.18085
NM_001369.3(DNAH5):c.2052+22C>A	rs150480592	0.00621
NM_031885.5(BBS2):c.1422G>A (p.Ser474=)	rs117033008	0.00250
NM_001378454.1(ALMS1):c.9822C>G (p.Thr3274=)	rs201446579	0.00245
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=)	rs201838492	0.00133
NM_023036.6(DNAI2):c.1574C>T (p.Ala525Val)	rs145602856	0.00036
NM_001378454.1(ALMS1):c.10238A>G (p.Glu3413Gly)	rs184779459	0.00032
NM_001378454.1(ALMS1):c.11748G>A (p.Glu3916=)	rs373364340	0.00007
NM_001369.3(DNAH5):c.6989-18T>C	rs2151800885
NM_153717.3(EVC):c.1563+216C>A	rs1194963469

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