ClinVar Miner

List of variants reported as uncertain significance by Molecular Genetics Lab, CHRU Brest

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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg) rs137917233 0.00180
NM_001291303.3(FAT4):c.11260A>G (p.Ser3754Gly) rs79909102 0.00061
NM_003737.4(DCHS1):c.8302C>T (p.Arg2768Cys) rs368211314 0.00019
NM_000548.5(TSC2):c.521C>T (p.Ser174Leu) rs747538587 0.00001
NM_020987.5(ANK3):c.7987G>A (p.Glu2663Lys) rs369092362 0.00001
NM_000240.4(MAOA):c.796-10T>C
NM_000489.6(ATRX):c.6742A>G (p.Ile2248Val)
NM_000834.5(GRIN2B):c.4208C>G (p.Ser1403Cys)
NM_000875.5(IGF1R):c.3178_3186+7del
NM_000875.5(IGF1R):c.926C>T (p.Ser309Leu)
NM_001009999.3(KDM1A):c.1747G>C (p.Glu583Gln)
NM_001035.3(RYR2):c.8161A>C (p.Ile2721Leu)
NM_001110792.2(MECP2):c.818C>G (p.Pro273Arg)
NM_001130438.3(SPTAN1):c.3292C>T (p.Arg1098Cys) rs1853920585
NM_001170629.2(CHD8):c.3389G>A (p.Arg1130His)
NM_001278116.2(L1CAM):c.2434C>G (p.Pro812Ala)
NM_001291303.3(FAT4):c.9517T>G (p.Trp3173Gly)
NM_001330078.2(NRXN1):c.314C>G (p.Ala105Gly)
NM_001348323.3(TRIP12):c.4861A>C (p.Thr1621Pro)
NM_001349338.3(FOXP1):c.1429-3C>G
NM_001356.5(DDX3X):c.959TAG[1] (p.Val321del) rs1555953527
NM_001368397.1(FRMPD4):c.857G>A (p.Arg286Gln) rs2060107292
NM_001386298.1(CIC):c.4665_4666del (p.Arg1555fs)
NM_001386298.1(CIC):c.632G>A (p.Arg211His)
NM_001658.4(ARF1):c.238C>T (p.His80Tyr)
NM_004068.4(AP2M1):c.1087G>C (p.Glu363Gln)
NM_004187.5(KDM5C):c.3199G>T (p.Glu1067Ter)
NM_004586.3(RPS6KA3):c.1148G>C (p.Arg383Pro)
NM_005120.3(MED12):c.4022G>A (p.Arg1341Gln)
NM_006013.5(RPL10):c.214G>A (p.Ala72Thr)
NM_006593.4(TBR1):c.2047T>G (p.Ter683Glu)
NM_006734.4(HIVEP2):c.2893C>T (p.Arg965Cys)
NM_006766.5(KAT6A):c.1481A>G (p.Gln494Arg)
NM_007118.4(TRIO):c.968A>G (p.Gln323Arg) rs777932649
NM_007363.5(NONO):c.809G>T (p.Arg270Leu)
NM_012309.5(SHANK2):c.162del (p.Asn55fs)
NM_015001.3(SPEN):c.6226_6227del (p.Lys2076fs) rs2148741011
NM_015015.3(KDM4B):c.1858_1861dup (p.Arg621fs)
NM_015335.5(MED13L):c.4024C>T (p.Arg1342Cys) rs2137290227
NM_015910.7(WDPCP):c.1187G>T (p.Ser396Ile)
NM_015910.7(WDPCP):c.395G>T (p.Gly132Val)
NM_017780.4(CHD7):c.4928_4939dup (p.Ile1646_Leu1647insArgArgThrIle)
NM_017934.7(PHIP):c.4981A>G (p.Arg1661Gly)
NM_018489.3(ASH1L):c.8342G>A (p.Arg2781Gln)
NM_020922.5(WNK3):c.322_323del (p.Gln108fs)
NM_020928.2(ZSWIM6):c.1259del (p.Asp420fs)
NM_021120.4(DLG3):c.1972+1G>A
NM_024665.7(TBL1XR1):c.699_700delinsTT (p.Trp233_Asn234delinsCysTyr)
NM_031407.7(HUWE1):c.5101G>A (p.Glu1701Lys) rs2148314338
NM_031407.7(HUWE1):c.5339G>A (p.Arg1780His)
NM_032590.5(KDM2B):c.1847G>A (p.Cys616Tyr)
NM_078629.4(MSL3):c.221G>C (p.Arg74Pro)
NM_080632.3(UPF3B):c.133_135del (p.Glu45del)
NM_170606.3(KMT2C):c.8782G>A (p.Asp2928Asn)
NM_182641.4(BPTF):c.2812+3A>T
NM_182925.5(FLT4):c.3179G>A (p.Arg1060Gln)

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