ClinVar Miner

List of variants in gene OBSL1 reported as pathogenic for not provided

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_015311.3(OBSL1):c.1273dup (p.Thr425fs) rs762334954 0.00009
NM_015311.3(OBSL1):c.2032C>T (p.Gln678Ter) rs775865076 0.00001
NC_000002.11:g.(?_220415557)_(220435954_?)del
NC_000002.11:g.(?_220434923)_(220435954_?)del
NM_015311.3(OBSL1):c.1149C>A (p.Cys383Ter) rs121918215
NM_015311.3(OBSL1):c.1230C>G (p.Tyr410Ter)
NM_015311.3(OBSL1):c.135G>A (p.Trp45Ter) rs1697317440
NM_015311.3(OBSL1):c.1406del (p.Pro469fs)
NM_015311.3(OBSL1):c.1427C>A (p.Ser476Ter) rs1321473082
NM_015311.3(OBSL1):c.1954del (p.Glu652fs) rs886041519
NM_015311.3(OBSL1):c.1997_2049del (p.Gly666fs) rs1553537027
NM_015311.3(OBSL1):c.2100_2122del (p.Gly701fs)
NM_015311.3(OBSL1):c.2278G>T (p.Glu760Ter)
NM_015311.3(OBSL1):c.259del (p.Arg87fs) rs2106118762
NM_015311.3(OBSL1):c.35dup (p.Cys13fs) rs752401295
NM_015311.3(OBSL1):c.458dup (p.Leu154fs) rs767237510
NM_015311.3(OBSL1):c.691G>T (p.Glu231Ter)
NM_015311.3(OBSL1):c.799dup (p.Cys267fs) rs2106114422

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