ClinVar Miner

List of variants reported as likely pathogenic by Autoinflammatory diseases unit,CHU de Montpellier

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Total variants: 48
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HGVS dbSNP
NC_000006.12:g.(?_10398710)_(10415642_?)del
NM_000381.4(MID1):c.1655+1G>A
NM_001032280.3(TFAP2A):c.742C>T (p.Arg248Trp) rs151344528
NM_001080517.3(SETD5):c.1077G>A (p.Glu359=)
NM_001128849.2(SMARCA4):c.2936G>A (p.Arg979Gln)
NM_001197104.1(KMT2A):c.478C>T (p.Arg160Ter) rs1555034779
NM_001291415.2(KDM6A):c.3095-1G>T
NM_001291415.2(KDM6A):c.3229A>G (p.Ser1077Gly)
NM_001291415.2(KDM6A):c.3590-2A>G
NM_001371623.1(TCOF1):c.3046G>A (p.Gly1016Ser)
NM_001374828.1(ARID1B):c.1567_1568dup (p.Ser524fs)
NM_001374828.1(ARID1B):c.5394+3A>C
NM_001374828.1(ARID1B):c.578_589del (p.Leu193_Phe196del)
NM_001429.4(EP300):c.6015_6028del (p.Gln2005fs)
NM_003070.5(SMARCA2):c.3602C>T (p.Ala1201Val) rs281875189
NM_003091.4(SNRPB):c.155+301G>C rs786201019
NM_003091.4(SNRPB):c.560-1G>T
NM_003482.3(KMT2D):c.15797G>A (p.Arg5266His) rs201481646
NM_003482.3(KMT2D):c.6114G>A (p.Trp2038Ter) rs1592138822
NM_003482.4(KMT2D):c.10357C>T (p.Gln3453Ter)
NM_003482.4(KMT2D):c.1259-14T>A
NM_003482.4(KMT2D):c.13660C>T (p.Gln4554Ter)
NM_003482.4(KMT2D):c.14020_14030delinsA (p.Leu4674fs)
NM_003482.4(KMT2D):c.14249del (p.Pro4750fs)
NM_003482.4(KMT2D):c.14873C>G (p.Ser4958Ter)
NM_003482.4(KMT2D):c.15110AGG[1] (p.Glu5038del)
NM_003482.4(KMT2D):c.15176A>G (p.His5059Arg)
NM_003482.4(KMT2D):c.15536G>T (p.Arg5179Leu)
NM_003482.4(KMT2D):c.15544G>C (p.Gly5182Arg)
NM_003482.4(KMT2D):c.16412+5G>C
NM_003482.4(KMT2D):c.296del (p.Pro99fs)
NM_003482.4(KMT2D):c.4171G>A (p.Glu1391Lys)
NM_003482.4(KMT2D):c.4520G>A (p.Cys1507Tyr)
NM_003482.4(KMT2D):c.4741+257_6959del
NM_003482.4(KMT2D):c.6354dup (p.Ala2119fs)
NM_003482.4(KMT2D):c.9145C>G (p.Leu3049Val)
NM_004247.4(EFTUD2):c.1947dup (p.Glu650fs)
NM_004380.3(CREBBP):c.3490G>C (p.Ala1164Pro) rs797045492
NM_006147.4(IRF6):c.158A>G (p.Glu53Gly)
NM_012330.4(KAT6B):c.5125del (p.Leu1709fs)
NM_013275.6(ANKRD11):c.373G>A (p.Ala125Thr)
NM_013275.6(ANKRD11):c.3931C>T (p.Arg1311Ter)
NM_013275.6(ANKRD11):c.4381_4382del (p.Lys1461fs)
NM_013275.6(ANKRD11):c.7564G>A (p.Glu2522Lys)
NM_013275.6(ANKRD11):c.7944C>A (p.Tyr2648Ter)
NM_015335.4(MED13L):c.2597C>T (p.Pro866Leu) rs1555246145
NM_024757.5(EHMT1):c.2530C>T (p.His844Tyr)
NM_133433.4(NIPBL):c.7288T>C (p.Tyr2430His)

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