ClinVar Miner

List of variants reported as uncertain significance for complex neurodevelopmental disorder by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (297):
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ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327 0.00496
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356 0.00068
NM_019066.5(MAGEL2):c.2660G>A (p.Arg887Gln) rs199772480 0.00014
NM_203446.3(SYNJ1):c.1906G>A (p.Val636Ile) rs373820739 0.00007
NM_020822.3(KCNT1):c.3059G>A (p.Arg1020His) rs373365707 0.00004
NM_000836.4(GRIN2D):c.2308G>A (p.Asp770Asn) rs775962298 0.00003
NM_015047.3(EMC1):c.245C>T (p.Thr82Met) rs869320625 0.00002
NM_020822.3(KCNT1):c.2044C>T (p.Arg682Trp) rs750994724 0.00002
NM_001040142.2(SCN2A):c.1837G>A (p.Val613Met) rs769069833 0.00001
NM_003165.6(STXBP1):c.1756G>A (p.Asp586Asn) rs746172968 0.00001
NM_006279.5(ST3GAL3):c.631G>A (p.Glu211Lys) rs1448699021 0.00001
NM_203446.3(SYNJ1):c.3601C>T (p.Arg1201Cys) rs114994257 0.00001
NM_000812.4(GABRB1):c.307C>T (p.Pro103Ser) rs775749394
NM_000814.6(GABRB3):c.841A>G (p.Thr281Ala) rs1555401442
NM_001099922.3(ALG13):c.2754ACC[14] (p.Pro945del) rs750710267
NM_001099922.3(ALG13):c.2797CCT[11] (p.Pro944_Pro945del) rs56717389
NM_001099922.3(ALG13):c.880C>T (p.Pro294Ser) rs753556936
NM_001110792.2(MECP2):c.6CGC[8] (p.Ala7_Ala8dup) rs398123566
NM_001127222.2(CACNA1A):c.3006_3008del (p.Arg1004del) rs763302316
NM_001127222.2(CACNA1A):c.3310_3315dup (p.Gly1104_Pro1105dup) rs776584949
NM_001127222.2(CACNA1A):c.5735G>A (p.Gly1912Glu) rs2054931821
NM_001127222.2(CACNA1A):c.6630CCA[5] (p.His2216_His2219del) rs759331923
NM_001127222.2(CACNA1A):c.7124C>A (p.Ala2375Asp) rs2054617959
NM_001130438.3(SPTAN1):c.1371G>T (p.Glu457Asp) rs1589203624
NM_001165963.4(SCN1A):c.5501C>T (p.Ala1834Val) rs780809852
NM_001271.4(CHD2):c.4297A>G (p.Lys1433Glu) rs1567160905
NM_001365999.1(SZT2):c.4343G>A (p.Arg1448His) rs775153972
NM_002487.3(NDN):c.533G>A (p.Arg178Lys) rs1555376130
NM_005660.3(SLC35A2):c.1066_1067insGCCTCT (p.Ala355_Ser356insCysLeu) rs1557042706
NM_015192.4(PLCB1):c.1940G>T (p.Gly647Val) rs1555786704
NM_021072.4(HCN1):c.1753A>T (p.Thr585Ser) rs1561081327
NM_031844.3(HNRNPU):c.133G>C (p.Glu45Gln) rs1680938345
NM_139058.3(ARX):c.1253C>G (p.Pro418Arg) rs2048682725
NM_152743.4(BRAT1):c.393_422del (p.Gln132_Ala141del) rs1562582216

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