ClinVar Miner

List of variants reported as uncertain significance by Génétique des Maladies du Développement, Hospices Civils de Lyon

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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.1250C>T (p.Pro417Leu) rs61753016 0.00004
NM_006306.4(SMC1A):c.-1C>T rs797044618 0.00002
NM_000814.6(GABRB3):c.694C>T (p.Arg232Ter) rs1595445975
NM_000834.5(GRIN2B):c.3028C>T (p.Pro1010Ser)
NM_000836.4(GRIN2D):c.2008C>T (p.Leu670Phe) rs1600982189
NM_001037.5(SCN1B):c.347C>T (p.Ser116Leu)
NM_001037.5(SCN1B):c.397G>A (p.Glu133Lys)
NM_001037.5(SCN1B):c.40+2T>G
NM_001040142.2(SCN2A):c.4447-1C>A rs2105385658
NM_001040142.2(SCN2A):c.5597T>C (p.Leu1866Ser)
NM_001081550.2(THOC2):c.3427G>A (p.Ala1143Thr) rs2047169812
NM_001099922.3(ALG13):c.298A>G (p.Ile100Val)
NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr)
NM_001110792.2(MECP2):c.1198C>A (p.Pro400Thr) rs61753000
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) rs61748420
NM_001134407.3(GRIN2A):c.1500G>A (p.Val500=)
NM_001134407.3(GRIN2A):c.2516A>T (p.His839Leu)
NM_001134407.3(GRIN2A):c.4229C>T (p.Ser1410Leu)
NM_001134407.3(GRIN2A):c.479A>G (p.Lys160Arg)
NM_001134407.3(GRIN2A):c.598A>G (p.Met200Val)
NM_001144967.3(NEDD4L):c.914A>G (p.Gln305Arg)
NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr)
NM_001184727.2(GPRASP1):c.3106C>T (p.Pro1036Ser) rs1569484943
NM_001184727.2(GPRASP1):c.3754C>A (p.Pro1252Thr) rs1569485074
NM_001242896.3(DEPDC5):c.3330+5G>C
NM_001271.4(CHD2):c.2892T>G (p.Asn964Lys)
NM_001271.4(CHD2):c.827C>T (p.Ala276Val)
NM_001273.5(CHD4):c.2569A>T (p.Ile857Phe)
NM_001330260.2(SCN8A):c.3307T>A (p.Ser1103Thr)
NM_001352027.3(PHF21A):c.1741C>T (p.Arg581Ter)
NM_001378120.1(MBD5):c.295C>G (p.Leu99Val) rs1226367404
NM_003042.4(SLC6A1):c.832A>C (p.Lys278Gln)
NM_003966.3(SEMA5A):c.741C>A (p.Phe247Leu)
NM_004006.3(DMD):c.10058A>C (p.His3353Pro) rs1569423551
NM_005120.3(MED12):c.2023C>T (p.Leu675Phe)
NM_005120.3(MED12):c.5017AAG[1] (p.Lys1674del)
NM_006009.4(TUBA1A):c.1232A>G (p.Glu411Gly)
NM_007118.4(TRIO):c.2327_2356del (p.Gln776_Phe785del)
NM_012309.5(SHANK2):c.3454dup (p.Glu1152fs) rs1565529155
NM_014271.4(IL1RAPL1):c.424C>G (p.Leu142Val)
NM_014491.4(FOXP2):c.774A>G (p.Gln258=)
NM_014927.5(CNKSR2):c.128A>G (p.Gln43Arg)
NM_016729.3(FOLR1):c.334A>G (p.Asn112Asp) rs2135388449
NM_018486.3(HDAC8):c.737+3A>G
NM_018489.3(ASH1L):c.7408C>T (p.Pro2470Ser) rs2148343408
NM_020822.3(KCNT1):c.2126G>A (p.Ser709Asn)
NM_020822.3(KCNT1):c.3407A>G (p.Gln1136Arg)
NM_024757.5(EHMT1):c.3173A>T (p.His1058Leu)
NM_152296.5(ATP1A3):c.2438C>T (p.Ala813Val)
NM_173495.3(PTCHD1):c.95C>T (p.Pro32Leu)
NM_213622.4(STAMBP):c.946G>A (p.Glu316Lys)

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