ClinVar Miner

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

Included ClinVar conditions (779):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 51
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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_000829.4(GRIA4):c.221C>T (p.Ala74Val)
NM_001031689.3(PLAA):c.215G>A (p.Cys72Tyr)
NM_001031689.3(PLAA):c.2350del (p.Lys783_Val784insTer) rs1587143858
NM_001032221.6(STXBP1):c.947_962del (p.Met316fs)
NM_001040142.2(SCN2A):c.330C>A (p.Tyr110Ter) rs2106151184
NM_001040142.2(SCN2A):c.4418T>A (p.Ile1473Lys)
NM_001083961.2(WDR62):c.897del (p.Cys300fs)
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_001164760.2(PRKAR1B):c.570G>A (p.Trp190Ter)
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_001367479.1(DNAH14):c.3697C>T (p.Gln1233Ter)
NM_001367561.1(DOCK7):c.5425C>T (p.Arg1809Trp) rs1646379326
NM_001371727.1(GABRB2):c.173C>T (p.Pro58Leu)
NM_001376571.1(MADD):c.3704G>A (p.Arg1235Gln)
NM_001690.4(ATP6V1A):c.31G>T (p.Asp11Tyr)
NM_003931.3(WASF1):c.715C>T (p.Pro239Ser) rs2114451272
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_007192.4(SUPT16H):c.2539C>T (p.Arg847Trp) rs2139397506
NM_018130.3(SHQ1):c.997C>G (p.Leu333Val)
NM_018245.3(OGDHL):c.1262C>A (p.Thr421Asn)
NM_018245.3(OGDHL):c.1552C>T (p.His518Tyr)
NM_018359.5(UFSP2):c.623del (p.Asn208fs)
NM_018928.3(PCDHGC4):c.683_762del (p.Leu228fs)
NM_019066.5(MAGEL2):c.3628C>T (p.Gln1210Ter)
NM_020461.4(TUBGCP6):c.4994A>G (p.Gln1665Arg)
NM_021614.4(KCNN2):c.1193T>C (p.Ile398Thr)
NM_024063.3(AFG2B):c.1526G>T (p.Cys509Phe)
NM_024496.4(IRF2BPL):c.320_321insGC (p.Gln108fs)
NM_024496.4(IRF2BPL):c.587dup (p.Asn197fs)
NM_030650.3(LNPK):c.896C>T (p.Ala299Val) rs759257720
NM_032756.4(HPDL):c.119A>C (p.Asp40Ala)
NM_139058.3(ARX):c.433G>T (p.Ala145Ser) rs1438576250
NM_194292.3(SASS6):c.1057-6_1057-2del

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