ClinVar Miner

List of variants studied for Joubert syndrome 26

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_015202.5(KATNIP):c.3719C>T (p.Ala1240Val) rs55953014 0.00935
NM_015202.5(KATNIP):c.3913G>A (p.Glu1305Lys) rs61730241 0.00500
NM_015202.5(KATNIP):c.2849C>T (p.Ser950Leu) rs71389806 0.00063
NM_015202.5(KATNIP):c.4711A>G (p.Ser1571Gly) rs138866758 0.00009
NM_015202.5(KATNIP):c.49C>T (p.Arg17Ter) rs142375551 0.00008
NM_015202.5(KATNIP):c.2722C>T (p.Arg908Cys) rs746045665 0.00002
NM_015202.5(KATNIP):c.1672C>T (p.Arg558Ter) rs757493420
NM_015202.5(KATNIP):c.2674C>T (p.Gln892Ter) rs864309712
NM_015202.5(KATNIP):c.274_275del (p.Phe92fs)
NM_015202.5(KATNIP):c.2959del (p.Asp987fs) rs770446723
NM_015202.5(KATNIP):c.3239A>G (p.Lys1080Arg)
NM_015202.5(KATNIP):c.3632-1G>C
NM_015202.5(KATNIP):c.4133+1G>A rs2144173006
NM_015202.5(KATNIP):c.4420del (p.Met1474fs) rs1555497891
NM_015202.5(KATNIP):c.4850G>A (p.Arg1617His)
NM_015202.5(KATNIP):c.700A>G (p.Ser234Gly) rs2142761867
NM_015202.5(KATNIP):c.922C>T (p.Gln308Ter) rs145247651

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