ClinVar Miner

List of variants reported as uncertain significance by Laboratory of Molecular Genetics, CHU Rennes

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_005618.4(DLL1):c.1802_1804del (p.Asp601_Ile602delinsVal) rs573197356 0.00301
NM_005618.4(DLL1):c.2117C>T (p.Ser706Leu) rs760189276 0.00009
NM_001374353.1(GLI2):c.349G>A (p.Ala117Thr) rs775984106 0.00006
NM_018249.6(CDK5RAP2):c.1772G>A (p.Arg591Gln) rs749612238 0.00004
NM_020812.4(DOCK6):c.934C>T (p.His312Tyr) rs370838036 0.00003
NM_001377229.1(DISP1):c.1657G>A (p.Glu553Lys) rs760562145 0.00002
NM_003072.5(SMARCA4):c.4232G>A (p.Arg1411Gln) rs886054155 0.00001
NM_016169.4(SUFU):c.1022C>T (p.Pro341Leu) rs587778699 0.00001
NM_000719.7(CACNA1C):c.1841T>C (p.Leu614Pro) rs1057518994
NM_001003787.4(STRADA):c.792T>A (p.Ser264Arg) rs1057519011
NM_001172509.2(SATB2):c.1198A>G (p.Lys400Glu) rs1057519013
NM_001377229.1(DISP1):c.1087A>G (p.Asn363Asp) rs876661336
NM_002397.5(MEF2C):c.152C>T (p.Thr51Ile) rs1057519001
NM_003070.5(SMARCA2):c.1450C>A (p.His484Asn) rs1057518990
NM_003709.4(KLF7):c.790G>A (p.Asp264Asn) rs1057518995
NM_012330.4(KAT6B):c.3154_3169del (p.Arg1052fs) rs1057519003
NM_015080.4(NRXN2):c.551T>G (p.Leu184Arg) rs1057518997
NM_015100.4(POGZ):c.1180_1181del (p.Met394fs) rs1057518170
NM_016529.6(ATP8A2):c.1883G>A (p.Cys628Tyr) rs1057518996
NM_017635.5(KMT5B):c.930del (p.Phe311fs) rs1057518998
NM_020320.5(RARS2):c.407T>C (p.Val136Ala) rs1057519014
NM_021120.4(DLG3):c.1469G>A (p.Ser490Asn) rs1057519008

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