List of variants reported as likely benign for Joubert syndrome 17 by Illumina Laboratory Services, Illumina

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Total variants: 21

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HGVS	dbSNP	gnomAD frequency
NM_001384732.1(CPLANE1):c.8344C>A (p.Pro2782Thr)	rs77014998	0.00719
NM_001384732.1(CPLANE1):c.6957A>G (p.Gln2319=)	rs143147192	0.00645
NM_001384732.1(CPLANE1):c.*396T>C	rs115541718	0.00638
NM_001384732.1(CPLANE1):c.8286C>T (p.Asp2762=)	rs114126795	0.00589
NM_001384732.1(CPLANE1):c.5329G>A (p.Val1777Ile)	rs142777778	0.00526
NM_001384732.1(CPLANE1):c.5421G>A (p.Lys1807=)	rs149313666	0.00495
NM_001384732.1(CPLANE1):c.4698A>G (p.Leu1566=)	rs143312971	0.00478
NM_001384732.1(CPLANE1):c.*807A>G	rs78011227	0.00418
NM_001384732.1(CPLANE1):c.4719C>T (p.Asp1573=)	rs143084362	0.00368
NM_001384732.1(CPLANE1):c.7234-7C>G	rs141575785	0.00285
NM_001384732.1(CPLANE1):c.5738-6C>T	rs148634159	0.00186
NM_001384732.1(CPLANE1):c.6905C>T (p.Thr2302Met)	rs34737149	0.00109
NM_001384732.1(CPLANE1):c.1883G>A (p.Arg628Lys)	rs74975451	0.00076
NM_001384732.1(CPLANE1):c.7920C>T (p.Ser2640=)	rs141486731	0.00045
NM_001384732.1(CPLANE1):c.5820+7C>T	rs185534019	0.00031
NM_001384732.1(CPLANE1):c.6443A>G (p.Asn2148Ser)	rs150999024	0.00031
NM_001384732.1(CPLANE1):c.82-14G>A	rs180804052	0.00019
NM_001384732.1(CPLANE1):c.1136C>T (p.Thr379Met)	rs373606997	0.00004
NM_001384732.1(CPLANE1):c.662T>C (p.Val221Ala)	rs370118778	0.00004
NM_001384732.1(CPLANE1):c.*423C>G	rs190089842
NM_001384732.1(CPLANE1):c.4986A>C (p.Gln1662His)	rs547409263

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