List of variants in gene combination B9D1, LOC130060455 reported as uncertain significance for Joubert syndrome

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

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_015681.6(B9D1):c.11C>G (p.Ala4Gly)	rs148563865	0.00017
NM_015681.6(B9D1):c.41A>G (p.Asn14Ser)	rs764022966	0.00003
NM_015681.6(B9D1):c.22G>A (p.Val8Ile)	rs745981234	0.00001
NM_015681.6(B9D1):c.26T>G (p.Phe9Cys)	rs1184352870	0.00001
NM_015681.6(B9D1):c.28C>G (p.Leu10Val)	rs1046425051	0.00001
NM_015681.6(B9D1):c.55A>C (p.Ser19Arg)	rs1280021718	0.00001
NM_015681.6(B9D1):c.20G>A (p.Ser7Asn)	rs1911256730
NM_015681.6(B9D1):c.49G>A (p.Val17Met)	rs758139304
NM_015681.6(B9D1):c.55A>G (p.Ser19Gly)	rs1280021718
NM_015681.6(B9D1):c.63+3G>T
NM_015681.6(B9D1):c.63+6C>A	rs751608872

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