ClinVar Miner

List of variants in gene ENPP1 reported as pathogenic by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

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Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_006208.3(ENPP1):c.2101-2A>T rs1585841844
NM_006208.3(ENPP1):c.2248dup (p.Ser750fs) rs587776797
NM_006208.3(ENPP1):c.2444+702_*868del
NM_006208.3(ENPP1):c.2677G>T (p.Glu893Ter) rs121918023
NM_006208.3(ENPP1):c.430+1del rs1554278331
NM_006208.3(ENPP1):c.797G>T (p.Gly266Val) rs121908248

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