ClinVar Miner

List of variants reported as pathogenic for arterial calcification, generalized, of infancy, 1

Included ClinVar conditions (2):
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Total variants: 14
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HGVS dbSNP
ENPP1, 2-BP DEL, 878AA
NM_006208.3(ENPP1):c.1025G>T (p.Gly342Val) rs121918025
NM_006208.3(ENPP1):c.1072_1082del (p.Gln358fs) rs1554203715
NM_006208.3(ENPP1):c.1112A>T (p.Tyr371Phe) rs121918026
NM_006208.3(ENPP1):c.1441C>T (p.Arg481Trp) rs373044722
NM_006208.3(ENPP1):c.1612G>C (p.Asp538His) rs387906673
NM_006208.3(ENPP1):c.1737G>C (p.Leu579Phe) rs121918024
NM_006208.3(ENPP1):c.1756G>A (p.Gly586Arg) rs777367269
NM_006208.3(ENPP1):c.2101-2A>T
NM_006208.3(ENPP1):c.2677G>T (p.Glu893Ter) rs121918023
NM_006208.3(ENPP1):c.783C>G (p.Tyr261Ter) rs267606784
NM_006208.3(ENPP1):c.795+1G>A rs753851892
NM_006208.3(ENPP1):c.797G>T (p.Gly266Val) rs121908248
NM_006208.3(ENPP1):c.913C>A (p.Pro305Thr) rs374270497

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