ClinVar Miner

List of variants studied for Joubert syndrome 40 by OMIM

Included ClinVar conditions (3):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_025103.4(IFT74):c.535C>G (p.Gln179Glu)	rs150219690	0.00004
NM_025103.4(IFT74):c.85C>T (p.Arg29Ter)	rs751583919	0.00001
NM_025103.4(IFT74):c.306-24A>G	rs2131540908
NM_025103.4(IFT74):c.853G>T (p.Glu285Ter)	rs1056125920
NM_025103.4(IFT74):c.92del (p.Leu31fs)	rs2131480409

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