ClinVar Miner

List of variants reported as likely pathogenic by Genomic Diagnostics Laboratory, National Institute of Medical Genomics

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro) rs587782471 0.00003
NM_014363.6(SACS):c.11624G>A (p.Arg3875His) rs863224916 0.00001
NM_000077.5(CDKN2A):c.151-6_151delinsC
NM_000077.5(CDKN2A):c.174_185delinsGG (p.Val59fs)
NM_004364.5(CEBPA):c.296GCG[7] (p.Gly104dup) rs780345232
NM_004364.5(CEBPA):c.334_336del (p.Pro112del)
NM_004364.5(CEBPA):c.426del (p.Arg142fs)
NM_004364.5(CEBPA):c.546GCC[8] (p.Pro189dup) rs746430067
NM_004364.5(CEBPA):c.918_919insGCGCTGCTTGGCCTTGTCGCAGAC (p.Arg306_Asn307insAlaLeuLeuGlyLeuValAlaAsp)
NM_004364.5(CEBPA):c.926_932delinsT (p.Glu309_Gln311delinsVal)
NM_004364.5(CEBPA):c.931CAG[3] (p.Gln312_Lys313insGln)
NM_004364.5(CEBPA):c.946_947insGGA (p.Glu316delinsGlyLys)
NM_006060.6(IKZF1):c.271A>T (p.Lys91Ter)
NM_006060.6(IKZF1):c.336_337insGA (p.Pro113fs)
NM_006060.6(IKZF1):c.436_438delinsGGGCTCCCTAA (p.Gln146fs)
NM_006060.6(IKZF1):c.450C>A (p.Cys150Ter)
NM_006060.6(IKZF1):c.475A>T (p.Asn159Tyr)
NM_006060.6(IKZF1):c.530T>C (p.Leu177Pro) rs2153477847
NM_014363.6(SACS):c.3836G>A (p.Trp1279Ter) rs756963289
NM_014363.6(SACS):c.475T>G (p.Tyr159Asp) rs1305721973
NM_016734.3(PAX5):c.1073G>A (p.Trp358Ter)
NM_016734.3(PAX5):c.1074del (p.Ser357_Trp358insTer)
NM_016734.3(PAX5):c.134_147del (p.Ala45fs)
NM_016734.3(PAX5):c.239C>G (p.Pro80Arg)
NM_016734.3(PAX5):c.263dup (p.Val90fs)
NM_016734.3(PAX5):c.388C>A (p.Pro130Thr)
NM_016734.3(PAX5):c.401C>G (p.Ser134Cys)
NM_016734.3(PAX5):c.46+1G>A
NM_016734.3(PAX5):c.583_584insCGGGGGAGCAA (p.Asn195fs)
NM_016734.3(PAX5):c.613G>T (p.Glu205Ter)
NM_016734.3(PAX5):c.77T>G (p.Val26Gly)
NM_016734.3(PAX5):c.963del (p.Ala322fs) rs780753361
NM_016734.3(PAX5):c.963dup (p.Ala322fs)
NM_016734.3(PAX5):c.967G>T (p.Gly323Ter)

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