ClinVar Miner

List of variants in gene SRCAP studied for Neurodevelopmental disorder

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_006662.3(SRCAP):c.1143_1153delinsTGT (p.Pro382fs) rs2151287951
NM_006662.3(SRCAP):c.1174C>T (p.Gln392Ter) rs1555463754
NM_006662.3(SRCAP):c.148del (p.His50fs) rs2052800289
NM_006662.3(SRCAP):c.1608_1611delinsCA (p.Gln537fs) rs2151288511
NM_006662.3(SRCAP):c.1793del (p.Gly598fs) rs2151288590
NM_006662.3(SRCAP):c.2518C>T (p.Arg840Ter) rs1232266542
NM_006662.3(SRCAP):c.3833C>A (p.Ser1278Ter) rs755307689
NM_006662.3(SRCAP):c.3893-2A>G rs2151293617
NM_006662.3(SRCAP):c.4200_4204del (p.Leu1401fs) rs2151293907
NM_006662.3(SRCAP):c.435del (p.Gln145fs) rs2151286256
NM_006662.3(SRCAP):c.4557_4560del (p.Gln1519fs) rs1567248015
NM_006662.3(SRCAP):c.4648del (p.Val1550fs) rs2151294192
NM_006662.3(SRCAP):c.4925T>A (p.Leu1642Ter) rs2151294378
NM_006662.3(SRCAP):c.5102_5103del (p.Ser1701fs) rs2151294456
NM_006662.3(SRCAP):c.5387del (p.Pro1796fs) rs2151294574
NM_006662.3(SRCAP):c.5461delinsAGA (p.Ser1821fs) rs1555464955
NM_006662.3(SRCAP):c.55-1G>A rs2151284583
NM_006662.3(SRCAP):c.5527del (p.Val1843fs) rs2151294647
NM_006662.3(SRCAP):c.5549_5556del (p.Thr1850fs) rs2151294652
NM_006662.3(SRCAP):c.5633dup (p.Pro1879fs) rs748467821
NM_006662.3(SRCAP):c.5977_5980del (p.Cys1993fs) rs2151296560
NM_006662.3(SRCAP):c.5984del (p.Pro1995fs) rs2151296564
NM_006662.3(SRCAP):c.6208C>T (p.Arg2070Ter) rs2151298248
NM_006662.3(SRCAP):c.6889del (p.Arg2297fs) rs2151299623
NM_006662.3(SRCAP):c.6901del (p.Glu2301fs) rs2151299633
NM_006662.3(SRCAP):c.833del (p.Pro278fs) rs886041787
NM_006662.3(SRCAP):c.8592dup (p.Lys2865fs) rs2053186315
NM_006662.3(SRCAP):c.9126dup (p.Gln3043fs) rs2151301216
NM_006662.3(SRCAP):c.9338_9341del (p.Leu3113fs) rs2053199279
NM_006662.3(SRCAP):c.9344del (p.Pro3115fs) rs2151301366
NM_006662.3(SRCAP):c.9364del (p.Leu3122fs) rs2151301385

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