ClinVar Miner

List of variants studied for Joubert syndrome 40

Included ClinVar conditions (3):
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_025103.4(IFT74):c.902C>T (p.Pro301Leu) rs78753648 0.00052
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.1343G>A (p.Arg448His)
NM_025103.4(IFT74):c.152G>A (p.Arg51His) rs73436007
NM_025103.4(IFT74):c.306-24A>G rs2131540908
NM_025103.4(IFT74):c.358G>T (p.Glu120Ter)
NM_025103.4(IFT74):c.587C>T (p.Ala196Val)
NM_025103.4(IFT74):c.853G>T (p.Glu285Ter) rs1056125920
NM_025103.4(IFT74):c.92del (p.Leu31fs) rs2131480409
NM_025103.4(IFT74):c.975-2_975-1del rs2131642498

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