ClinVar Miner

List of variants studied for complex neurodevelopmental disorder by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_022786.3(ARV1):c.175-2A>G rs1294383261 0.00001
NM_001032221.6(STXBP1):c.1216C>T (p.Arg406Cys) rs796053367
NM_001032221.6(STXBP1):c.145_148del (p.Asp49fs) rs2132444703
NM_001037333.3(CYFIP2):c.887A>T (p.Asp296Val)
NM_001040142.2(SCN2A):c.2388+1G>A rs1698674881
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001110792.2(MECP2):c.1267_1355del (p.Ser423fs)
NM_001110792.2(MECP2):c.48_55del (p.Glu18fs) rs786205043
NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg) rs61749715
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001127222.2(CACNA1A):c.1647del (p.Phe550fs) rs2058057299
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs) rs1064794262
NM_001130438.3(SPTAN1):c.1210C>T (p.Gln404Ter) rs2131030804
NM_001130438.3(SPTAN1):c.4343A>C (p.Gln1448Pro) rs1856116625
NM_001130438.3(SPTAN1):c.840dup (p.Asp281Ter) rs2131011877
NM_001165963.4(SCN1A):c.4476G>A (p.Lys1492=) rs1085307730
NM_001205293.3(CACNA1E):c.1090C>T (p.Arg364Ter)
NM_001326342.2(CELF2):c.1517G>A (p.Arg506His) rs2132785456
NM_001330260.2(SCN8A):c.2824_2825insA (p.Trp942Ter) rs2138863024
NM_001365999.1(SZT2):c.6120_6122del (p.Val2041del) rs746200792
NM_001365999.1(SZT2):c.8811del (p.Ser2938fs) rs745420974
NM_001367534.1(CAMK2G):c.875G>C (p.Arg292Pro) rs397514627
NM_004974.4(KCNA2):c.585dup (p.His196fs)
NM_004975.4(KCNB1):c.1503dup (p.Lys502Ter) rs2146813259
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204
NM_005249.5(FOXG1):c.676C>G (p.Gln226Glu)
NM_015047.3(EMC1):c.2802+2T>C
NM_019066.5(MAGEL2):c.2319del (p.Ala772_Trp773insTer)
NM_033453.4(ITPA):c.359_366dup (p.Gly123fs) rs1407446171
NM_173354.5(SIK1):c.1839C>A (p.Cys613Ter)
NM_177550.5(SLC13A5):c.425del (p.Thr142fs) rs2151495220

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