ClinVar Miner

List of variants reported as likely pathogenic for Neurodevelopmental disorder by University of Washington Center for Mendelian Genomics, University of Washington

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_001190274.2(FBXO11):c.1042-1G>C rs1572806589
NM_001190274.2(FBXO11):c.1260+1G>C rs1672276134
NM_001190274.2(FBXO11):c.1612A>G (p.Ile538Val) rs1553338592
NM_001190274.2(FBXO11):c.1825_1829del (p.Glu608_Glu609insTer) rs1671197579
NM_001190274.2(FBXO11):c.1868C>G (p.Thr623Arg) rs1671196392
NM_001190274.2(FBXO11):c.2084-1G>A rs1670754178
NM_001190274.2(FBXO11):c.2084-6_2085dup rs1670753929
NM_001190274.2(FBXO11):c.2518T>C (p.Ser840Pro) rs1553335247
NM_001190274.2(FBXO11):c.2675C>A (p.Ala892Asp) rs1670358755
NM_001190274.2(FBXO11):c.2700_2703dup (p.Ala902fs) rs1670356870
NM_001190274.2(FBXO11):c.2709dup (p.Glu904Ter) rs1553334874
NM_001190274.2(FBXO11):c.2714C>G (p.Pro905Arg) rs1670356255
NM_001190274.2(FBXO11):c.2729A>G (p.Asp910Gly) rs1670355281
NM_001190274.2(FBXO11):c.2738_2739del (p.Leu912_Tyr913insTer) rs1553334863
NM_001190274.2(FBXO11):c.319_320del (p.Leu107fs) rs1672866585
NM_001190274.2(FBXO11):c.414A>T (p.Arg138Ser) rs1553342109
NM_001190274.2(FBXO11):c.467A>G (p.Gln156Arg) rs1672806975
NM_001190274.2(FBXO11):c.506_507del (p.Ser169fs) rs1672803381
NM_001394998.1(TANC2):c.1441+1G>A rs2045256930
NM_001394998.1(TANC2):c.3003del (p.Ala1002fs) rs2047893330
NM_001394998.1(TANC2):c.4268+2T>G rs2048929422
NM_001394998.1(TANC2):c.4657del (p.Arg1553fs) rs2048988947
NM_001394998.1(TANC2):c.4699C>T (p.Gln1567Ter) rs764041869
NM_001394998.1(TANC2):c.4965_4968del (p.Gln1656fs) rs2048999762
NM_015021.3(ZNF292):c.1160del (p.Arg387fs) rs1775120706
NM_015021.3(ZNF292):c.1360C>T (p.Arg454Ter) rs1215967523
NM_015021.3(ZNF292):c.1567C>T (p.Gln523Ter) rs1775143865
NM_015021.3(ZNF292):c.2170del (p.Cys724fs) rs1775179321
NM_015021.3(ZNF292):c.2490_2494dup (p.Ser832fs) rs1775194783
NM_015021.3(ZNF292):c.265C>T (p.Arg89Ter) rs865909396
NM_015021.3(ZNF292):c.2814_2821dup (p.Val941fs) rs1775218146
NM_015021.3(ZNF292):c.3066_3069del (p.Glu1022fs) rs1135401779
NM_015021.3(ZNF292):c.3460_3463del (p.Val1154fs) rs1775264625
NM_015021.3(ZNF292):c.3709dup (p.Thr1237fs) rs1775284293
NM_015021.3(ZNF292):c.3724del (p.Gln1242fs) rs1775285095
NM_015021.3(ZNF292):c.3812C>A (p.Ser1271Ter) rs772762833
NM_015021.3(ZNF292):c.433del (p.Ser145fs) rs1772907934
NM_015021.3(ZNF292):c.4417dup (p.Ser1473fs) rs1775334064
NM_015021.3(ZNF292):c.4897A>T (p.Lys1633Ter) rs1775368255
NM_015021.3(ZNF292):c.5185C>T (p.Gln1729Ter) rs1280838951
NM_015021.3(ZNF292):c.5515_5569del (p.Glu1839fs) rs1775415071
NM_015021.3(ZNF292):c.5959_5965dup (p.Gly1989fs) rs1775442122
NM_015021.3(ZNF292):c.6142_6145del (p.Lys2048fs) rs764995318
NM_015021.3(ZNF292):c.6160_6161del (p.Glu2054fs) rs1301328139
NM_015021.3(ZNF292):c.6279dup (p.Arg2094fs) rs1775468280
NM_015021.3(ZNF292):c.6343C>T (p.Arg2115Ter) rs866467799
NM_015021.3(ZNF292):c.6541C>T (p.Arg2181Ter) rs377387515
Single allele

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