ClinVar Miner

List of variants in gene ENPP1 reported as likely pathogenic

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln) rs1044498 0.32168
NM_006208.3(ENPP1):c.1831C>G (p.Leu611Val) rs79079368 0.01455
NM_006208.3(ENPP1):c.2376T>A (p.Asn792Lys) rs137853273 0.00004
NM_006208.3(ENPP1):c.1441C>T (p.Arg481Trp) rs373044722 0.00001
NM_006208.3(ENPP1):c.1652A>G (p.Tyr551Cys) rs753071702 0.00001
NM_006208.3(ENPP1):c.1769G>A (p.Ser590Asn) rs748798632 0.00001
NM_006208.3(ENPP1):c.2608-1G>A rs149828062 0.00001
NM_006208.3(ENPP1):c.749C>T (p.Pro250Leu) rs754659608 0.00001
NM_006208.3(ENPP1):c.1000C>G (p.Pro334Ala) rs1562523328
NM_006208.3(ENPP1):c.1025G>T (p.Gly342Val) rs121918025
NM_006208.3(ENPP1):c.1437+1G>T rs1782169595
NM_006208.3(ENPP1):c.1503del (p.Phe501fs) rs2114715466
NM_006208.3(ENPP1):c.1565+1G>T rs2114715547
NM_006208.3(ENPP1):c.1701del (p.Ile567fs)
NM_006208.3(ENPP1):c.2312-5_2313del
NM_006208.3(ENPP1):c.2746del (p.Thr916fs)
NM_006208.3(ENPP1):c.323G>T (p.Cys108Phe) rs763922486
NM_006208.3(ENPP1):c.359G>C (p.Cys120Ser)
NM_006208.3(ENPP1):c.378T>A (p.Cys126Ter)
NM_006208.3(ENPP1):c.556+2T>G
NM_006208.3(ENPP1):c.583T>C (p.Cys195Arg)
NM_006208.3(ENPP1):c.715+1G>C
NM_006208.3(ENPP1):c.761del (p.Thr254fs) rs2114700273
NM_006208.3(ENPP1):c.795+1G>A rs753851892
NM_006208.3(ENPP1):c.796-2A>G
NM_006208.3(ENPP1):c.796G>A (p.Gly266Arg) rs2114702042

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