ClinVar Miner

List of variants in gene ENPP1 reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_006208.3(ENPP1):c.-13G>A rs535293574 0.01629
NM_006208.3(ENPP1):c.313+10del rs778260177 0.00389
NM_006208.3(ENPP1):c.2757A>T (p.Pro919=) rs73541508 0.00178
NM_006208.3(ENPP1):c.1056T>G (p.Ala352=) rs150279426 0.00115
NM_006208.3(ENPP1):c.2624C>T (p.Ser875Phe) rs140729669 0.00086
NM_006208.3(ENPP1):c.2088C>T (p.Thr696=) rs142835743 0.00006
NM_006208.3(ENPP1):c.2633T>C (p.Val878Ala) rs754251347 0.00004
NM_006208.3(ENPP1):c.1756G>A (p.Gly586Arg) rs777367269 0.00001
NM_006208.3(ENPP1):c.1791T>C (p.Asn597=) rs548504035 0.00001
NM_006208.3(ENPP1):c.1565+2dup rs772919133
NM_006208.3(ENPP1):c.27C>G (p.Gly9=) rs794726927

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