ClinVar Miner

List of variants reported as pathogenic for complex neurodevelopmental disorder by Undiagnosed Diseases Network, NIH

Included ClinVar conditions (295):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr) rs114925667 0.00169
NC_000016.10:g.78152047_78188346del
NC_000023.11:g.18419574_18504791del
NM_001032221.6(STXBP1):c.246+2_325+14del
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.63-73_1087del
NM_001110792.2(MECP2):c.737_1311del (p.Ala246fs) rs1569548274
NM_001130021.3(ATP6V0A1):c.2219G>A (p.Arg740Gln) rs1567871600
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr) rs12131800
NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter) rs267608643
NM_001323289.2(CDKL5):c.2842C>T (p.Arg948Ter) rs1555955296
NM_001353921.2(ARHGEF9):c.1306del (p.Glu436fs) rs1602253296
NM_001958.5(EEF1A2):c.796C>T (p.Arg266Trp) rs1555883505
NM_004974.4(KCNA2):c.881G>A (p.Arg294His) rs886041761
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204
NM_005249.5(FOXG1):c.624C>A (p.Tyr208Ter) rs267606826
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs) rs770374710
NM_024818.6(UBA5):c.907T>C (p.Cys303Arg) rs1553770577
NM_033453.4(ITPA):c.263+583_295+1203del
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr) rs796052505
Single allele

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