ClinVar Miner

List of variants studied for complex neurodevelopmental disorder by Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001365999.1(SZT2):c.9629G>A (p.Arg3210His) rs371193436 0.00004
NM_001367561.1(DOCK7):c.3541C>T (p.Arg1181Cys) rs202054691 0.00001
NM_172107.4(KCNQ2):c.1291G>A (p.Gly431Arg) rs746853951 0.00001
NM_001032221.6(STXBP1):c.947_962del (p.Met316fs)
NM_001040142.2(SCN2A):c.330C>A (p.Tyr110Ter) rs2106151184
NM_001099922.3(ALG13):c.314T>C (p.Met105Thr)
NM_001127222.2(CACNA1A):c.1924G>A (p.Asp642Asn) rs2057938033
NM_001127222.2(CACNA1A):c.7087C>T (p.Arg2363Cys)
NM_001127644.2(GABRA1):c.1350A>T (p.Lys450Asn) rs142385746
NM_001165963.4(SCN1A):c.1133del (p.Leu378fs) rs1698004184
NM_001165963.4(SCN1A):c.242A>G (p.Asp81Gly) rs1684663181
NM_001165963.4(SCN1A):c.2800A>C (p.Met934Leu)
NM_001165963.4(SCN1A):c.36del (p.Asp12fs) rs1684704927
NM_001165963.4(SCN1A):c.4379A>G (p.Tyr1460Cys)
NM_001165963.4(SCN1A):c.4511del (p.Gln1504fs)
NM_001289080.2(CNTN6):c.1492+1G>T
NM_001323289.2(CDKL5):c.1082del (p.Pro361fs)
NM_001326342.2(CELF2):c.746G>T (p.Gly249Val)
NM_001365999.1(SZT2):c.5797C>T (p.His1933Tyr) rs2153934308
NM_001367561.1(DOCK7):c.5425C>T (p.Arg1809Trp) rs1646379326
NM_005249.5(FOXG1):c.634del (p.Ile211_Met212insTer) rs2138661266
NM_005458.8(GABBR2):c.2084G>A (p.Ser695Asn) rs1554689319
NM_005458.8(GABBR2):c.2737A>G (p.Ser913Gly) rs1830289381
NM_006922.4(SCN3A):c.2017G>T (p.Glu673Ter)
NM_139058.3(ARX):c.433G>T (p.Ala145Ser) rs1438576250

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