List of variants in gene B9D2 reported as benign for Joubert syndrome 1

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_030578.4(B9D2):c.-5+107G>A	rs2241712	0.71256
NM_030578.4(B9D2):c.33A>G (p.Ile11Met)	rs2241714	0.71244
NM_030578.4(B9D2):c.*18G>A	rs1800468	0.05927
NM_030578.4(B9D2):c.215-16C>G	rs3087453	0.01363
NM_030578.4(B9D2):c.195C>T (p.Phe65=)	rs34088631	0.00261
NM_030578.4(B9D2):c.88+6C>T	rs112498529	0.00205
NM_030578.4(B9D2):c.183C>T (p.Ile61=)	rs140901774	0.00155
NM_030578.4(B9D2):c.513C>T (p.Tyr171=)	rs143680317	0.00014

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