ClinVar Miner

List of variants reported as pathogenic by Genetics Laboratory, Department of Biology, Semnan University

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991 0.00146
NM_052867.4(NALCN):c.2563C>T (p.Arg855Ter) rs376152742 0.00001
NM_000237.3(LPL):c.765_766del (p.Gly256fs) rs1563575291
NM_000329.3(RPE65):c.170T>C (p.Phe57Ser)
NM_000350.3(ABCA4):c.1698C>G (p.His566Gln)
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp) rs104894578
NM_001034853.2(RPGR):c.3184G>T (p.Glu1062Ter) rs2147190626
NM_001195263.2(PDZD7):c.251T>C (p.Ile84Thr) rs773193491
NM_002180.3(IGHMBP2):c.2540del (p.Gln847fs) rs1225532037
NM_002906.4(RDX):c.1346del (p.Ala449fs) rs2134302220
NM_004946.3(DOCK2):c.471-2A>G rs2113355272
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter) rs113993991
NM_016239.4(MYO15A):c.10425C>A (p.Tyr3475Ter)
NM_016239.4(MYO15A):c.3474G>A (p.Trp1158Ter)
NM_018344.6(SLC29A3):c.308_309del (p.Tyr102_Phe103insTer) rs796052139
NM_020436.5(SALL4):c.712C>T (p.Gln238Ter) rs2122965458
NM_080680.3(COL11A2):c.966dup (p.Thr323fs) rs748440351
NM_152564.5(VPS13B):c.1043G>A (p.Trp348Ter) rs2132516120

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