ClinVar Miner

List of variants reported as likely pathogenic for Neurodevelopmental abnormality

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001673.5(ASNS):c.1439C>T (p.Ser480Phe) rs754043007 0.00001
NM_138364.4(PRMT9):c.773A>T (p.Asp258Val) rs200956405 0.00001
NM_000135.4(FANCA):c.3408+1G>T rs1567601557
NM_000188.3(HK1):c.1252A>G (p.Lys418Glu) rs1564557037
NM_001127222.2(CACNA1A):c.1914-1G>A rs2145002387
NM_001134407.3(GRIN2A):c.1946T>G (p.Leu649Arg)
NM_001367943.1(TCF7L2):c.1197del (p.Tyr400fs) rs2137178800
NM_002069.6(GNAI1):c.68_70del (p.Leu23del) rs1787388036
NM_003036.4(SKI):c.91T>G (p.Ser31Ala) rs1569656981
NM_003590.5(CUL3):c.827_828del (p.Ile276fs) rs1692821396
NM_006521.6(TFE3):c.560C>T (p.Thr187Met) rs2064742925
NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del) rs1553154062
NM_012199.5(AGO1):c.569T>C (p.Leu190Pro) rs1645264815
NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1]) rs1789934246
NM_018297.4(NGLY1):c.982C>T (p.Arg328Cys) rs762276611
NM_078480.3(PUF60):c.1673_1674del (p.Ser558fs) rs1816304706
NM_133433.4(NIPBL):c.-457_-456delinsAT rs2149510283
NM_205768.3(ZBTB18):c.1373A>G (p.Tyr458Cys) rs1698436913

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