ClinVar Miner

List of variants reported as likely benign by Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_000379.4(XDH):c.3276+12A>G rs1366813 0.75380
NM_000152.5(GAA):c.1327-18A>G rs2278619 0.71811
NM_001384474.1(LOXHD1):c.4530+107A>G rs1450425 0.66249
NM_004285.4(H6PD):c.745+88T>A rs12032814 0.23253
NM_198576.4(AGRN):c.3516+10G>C rs76264143 0.05034
NM_016247.4(IMPG2):c.3439C>T (p.Pro1147Ser) rs111784356 0.02010
NM_020639.3(RIPK4):c.1884C>T (p.Ser628=) rs55812846 0.00492
NM_001374828.1(ARID1B):c.2654C>T (p.Ser885Leu) rs150140314 0.00108
NM_001193315.2(VIPAS39):c.136G>A (p.Val46Met) rs148360332 0.00106
NM_017780.4(CHD7):c.3613A>G (p.Ile1205Val) rs751726519 0.00004
NM_206933.4(USH2A):c.12275G>A (p.Arg4092Lys) rs727505170 0.00004
NM_001042472.3(ABHD12):c.1189C>T (p.Gln397Ter) rs745990956 0.00003
NM_001256789.3(CACNA1F):c.209G>A (p.Arg70Gln) rs781923569 0.00003
NM_001267550.2(TTN):c.66283C>T (p.Arg22095Trp) rs571093313 0.00001
NM_014000.3(VCL):c.2924G>A (p.Arg975Gln) rs767325003 0.00001
NM_020297.4(ABCC9):c.1603T>C (p.Tyr535His) rs397517184 0.00001
NM_000059.4(BRCA2):c.10102T>C (p.Ser3368Pro) rs786205482
NM_000397.4(CYBB):c.34A>C (p.Ile12Leu) rs797044560
NM_000542.5(SFTPB):c.856+16del rs786205634
NM_001039348.3(EFEMP1):c.*6del rs200536754
NM_001256789.3(CACNA1F):c.3085T>C (p.Cys1029Arg) rs797044562
NM_001267550.2(TTN):c.67534G>T (p.Asp22512Tyr) rs786205540
NM_002016.2(FLG):c.11573G>A (p.Arg3858His) rs74129447
NM_002609.4(PDGFRB):c.683G>A (p.Gly228Asp) rs374239531
NM_004738.5(VAPB):c.656G>T (p.Gly219Val) rs786205553
NM_015338.6(ASXL1):c.453C>A (p.Ser151Arg) rs750955319
NM_017990.5(PDPR):c.1360G>T (p.Gly454Cys) rs202246074
NM_020937.4(FANCM):c.1397-15del rs875989813
NM_024301.5(FKRP):c.33G>C (p.Ala11=) rs786205520
NM_031885.5(BBS2):c.117G>C (p.Lys39Asn) rs755877218
NM_198576.4(AGRN):c.2457G>C (p.Gly819=) rs112039851

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