ClinVar Miner

List of variants reported as pathogenic by Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000152.5(GAA):c.781G>A (p.Ala261Thr) rs543360994 0.00004
NM_000213.5(ITGB4):c.794dup (p.Ala266fs) rs757050033 0.00002
NM_207581.4(DUOXA2):c.604G>A (p.Ala202Thr) rs770148072 0.00002
NM_003235.5(TG):c.48G>A (p.Trp16Ter) rs780846892 0.00001
NM_000094.4(COL7A1):c.6103del (p.Glu2035fs) rs2107674323
NM_000152.5(GAA):c.1226_1227insG (p.Asp409fs) rs1598578030
NM_000152.5(GAA):c.1538A>G (p.Asp513Gly) rs1598581682
NM_000152.5(GAA):c.1895T>G (p.Leu632Arg) rs1598585402
NM_000152.5(GAA):c.876C>G (p.Tyr292Ter) rs763216519
NM_000157.4(GBA1):c.1599G>A (p.Trp533Ter) rs1671655923
NM_000355.4(TCN2):c.428-2A>G rs2087581122
NM_000369.5(TSHR):c.545+5G>T rs1888838395
NM_001005242.3(PKP2):c.1379-1G>C rs779082302
NM_001171155.2(PET100):c.115-3C>G
NM_001272071.2(AP1S2):c.1-2A>G rs1934209113
NM_003466.4(PAX8):c.457_458del (p.Leu153fs) rs1690965885
NM_005562.3(LAMC2):c.3385C>T (p.Arg1129Ter) rs201307156
NM_006941.4(SOX10):c.1155_1174dup (p.Phe392fs) rs1932131665
NM_006941.4(SOX10):c.1379del (p.Tyr460fs) rs1932122748
NM_006941.4(SOX10):c.207_208del (p.Cys71fs) rs1932469753
NM_006941.4(SOX10):c.425G>C (p.Trp142Ser) rs886039664
NM_006941.4(SOX10):c.479T>C (p.Leu160Pro) rs1482985217
NM_006941.4(SOX10):c.89C>A (p.Ser30Ter) rs1932477493
NM_201384.3(PLEC):c.2455G>T (p.Glu819Ter) rs1554713693
NM_207581.4(DUOXA2):c.501C>A (p.Cys167Ter) rs781126484

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