ClinVar Miner

List of variants in gene DSE reported as likely pathogenic

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_013352.4(DSE):c.2091C>G (p.Tyr697Ter) rs2482304968
NM_013352.4(DSE):c.2097G>A (p.Trp699Ter)
NM_013352.4(DSE):c.22dup (p.Ala8fs) rs2482082556
NM_013352.4(DSE):c.2428C>T (p.Arg810Ter) rs199731077
NM_013352.4(DSE):c.2538_2541del (p.Lys846fs) rs1784207138
NM_013352.4(DSE):c.416+1G>A rs2482086431

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