ClinVar Miner

List of variants in gene OSTM1 reported as pathogenic for not provided

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NC_000006.11:g.(?_108385369)_(108385523_?)del
NC_000006.11:g.(?_108395434)_(108395855_?)del
NM_014028.4(OSTM1):c.256G>T (p.Glu86Ter)
NM_014028.4(OSTM1):c.352del (p.Leu118fs)
NM_014028.4(OSTM1):c.358C>T (p.Gln120Ter)
NM_014028.4(OSTM1):c.402_402+1dup
NM_014028.4(OSTM1):c.410C>G (p.Ser137Ter) rs2114606433
NM_014028.4(OSTM1):c.415_416del (p.Gln140fs) rs794727287
NM_014028.4(OSTM1):c.421_422del (p.Ser141fs)
NM_014028.4(OSTM1):c.442del (p.Met148fs) rs2114606394
NM_014028.4(OSTM1):c.498G>A (p.Trp166Ter)
NM_014028.4(OSTM1):c.548C>G (p.Ser183Ter)
NM_014028.4(OSTM1):c.551del (p.Asn184fs)
NM_014028.4(OSTM1):c.560del (p.Val187fs)
NM_014028.4(OSTM1):c.564T>G (p.Tyr188Ter)
NM_014028.4(OSTM1):c.692dup (p.Ser232fs) rs2114593143
NM_014028.4(OSTM1):c.796C>T (p.Arg266Ter) rs781715787

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