List of variants in gene KATNIP reported as uncertain significance for Joubert syndrome 26

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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: 7

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HGVS	dbSNP	gnomAD frequency
NM_015202.5(KATNIP):c.2849C>T (p.Ser950Leu)	rs71389806	0.00063
NM_015202.5(KATNIP):c.2722C>T (p.Arg908Cys)	rs746045665	0.00002
NM_015202.5(KATNIP):c.3151C>A (p.Pro1051Thr)
NM_015202.5(KATNIP):c.3239A>G (p.Lys1080Arg)
NM_015202.5(KATNIP):c.4399G>A (p.Asp1467Asn)
NM_015202.5(KATNIP):c.4850G>A (p.Arg1617His)
NM_015202.5(KATNIP):c.700A>G (p.Ser234Gly)	rs2142761867

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