ClinVar Miner

List of variants reported as likely pathogenic by Genetics Department, University Hospital of Toulouse

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_012186.3(FOXE3):c.232G>A (p.Ala78Thr) rs377669670 0.00007
NM_000325.6(PITX2):c.332T>C (p.Phe111Ser) rs1729003669
NM_000965.5(RARB):c.1151G>A (p.Gly384Asp) rs1701834292
NM_000965.5(RARB):c.1205T>C (p.Leu402Pro)
NM_000965.5(RARB):c.307G>T (p.Gly103Cys)
NM_000965.5(RARB):c.624_635del (p.Asp208_Arg212delinsGlu)
NM_001112704.2(VAX1):c.212del (p.Pro71fs)
NM_001202.6(BMP4):c.1118G>A (p.Cys373Tyr)
NM_001368894.2(PAX6):c.-118_-117del rs1554986858
NM_001368894.2(PAX6):c.142-3T>C
NM_001378452.1(ITPR1):c.5527G>C (p.Gly1843Arg)
NM_003106.4(SOX2):c.154T>C (p.Ser52Pro)
NM_003106.4(SOX2):c.22G>T (p.Glu8Ter) rs1208628241
NM_003468.4(FZD5):c.1081_1082insGAA (p.His361delinsArgAsn) rs2091987023
NM_003468.4(FZD5):c.1181_1246del (p.Asn394_Gly415del) rs2091986259
NM_005267.5(GJA8):c.175C>T (p.Pro59Ser)
NM_005902.4(SMAD3):c.334_335delinsCT (p.Ala112Leu) rs1595941823
NM_005902.4(SMAD3):c.788C>T (p.Pro263Leu) rs387906855
NM_005902.4(SMAD3):c.991G>T (p.Val331Phe) rs1320208623
NM_006439.5(MAB21L2):c.1A>C (p.Met1Leu) rs1771601609
NM_006744.4(RBP4):c.218C>T (p.Ala73Val)
NM_006744.4(RBP4):c.271A>G (p.Met91Val)
NM_006744.4(RBP4):c.358G>C (p.Asp120His)
NM_006744.4(RBP4):c.358G>T (p.Asp120Tyr)
NM_006744.4(RBP4):c.383A>G (p.Asp128Gly)
NM_006744.4(RBP4):c.394T>A (p.Tyr132Asn) rs1329285216
NM_006744.4(RBP4):c.569-1G>A rs2058270689
NM_012186.3(FOXE3):c.310C>T (p.Arg104Cys) rs755377651
NM_015692.5(CPAMD8):c.1691dup (p.Arg565fs)
NM_022369.4(STRA6):c.1699C>T (p.Arg567Ter)

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