ClinVar Miner

List of variants reported as uncertain significance for Arterial calcification, generalized, of infancy, 1; Type 2 diabetes mellitus; Obesity; Hypophosphatemic rickets, autosomal recessive, 2; Hypopigmentation-punctate palmoplantar keratoderma syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_006208.3(ENPP1):c.2330A>G (p.His777Arg) rs147346173 0.00028
NM_006208.3(ENPP1):c.*128C>T rs371896132 0.00021
NM_006208.3(ENPP1):c.614C>A (p.Ala205Glu) rs145868241 0.00017
NM_006208.3(ENPP1):c.1798T>C (p.Tyr600His) rs199890118 0.00012
NM_006208.3(ENPP1):c.1699A>G (p.Ile567Val) rs750660271 0.00008
NM_006208.3(ENPP1):c.1352A>G (p.Tyr451Cys) rs201519006 0.00007
NM_006208.3(ENPP1):c.626C>T (p.Thr209Met) rs187764662 0.00006
NM_006208.3(ENPP1):c.685G>A (p.Gly229Ser) rs147798392 0.00006
NM_006208.3(ENPP1):c.2380G>A (p.Val794Ile) rs201757026 0.00005
NM_006208.3(ENPP1):c.2633T>C (p.Val878Ala) rs754251347 0.00004
NM_006208.3(ENPP1):c.2089G>A (p.Val697Met) rs762065573 0.00003
NM_006208.3(ENPP1):c.595A>G (p.Asn199Asp) rs766617922 0.00001
NM_006208.3(ENPP1):c.1437+3_1437+6del rs747843796
NM_006208.3(ENPP1):c.2236A>C (p.Asn746His) rs144099489
NM_006208.3(ENPP1):c.2252G>A (p.Gly751Glu) rs1195604374

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