ClinVar Miner

List of variants reported as pathogenic for arterial calcification, generalized, of infancy, 2 by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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NM_001171.5(ABCC6):c.1552C>T (p.Arg518Ter) rs72650700
NM_001171.5(ABCC6):c.2294G>A (p.Arg765Gln) rs67561842
NM_001171.5(ABCC6):c.2787+1G>T rs72664209
NM_001171.5(ABCC6):c.3421C>T (p.Arg1141Ter) rs72653706
NM_001171.5(ABCC6):c.3736-1G>A rs63750273
NM_001171.5(ABCC6):c.3940C>T (p.Arg1314Trp) rs63750759
NM_001171.5(ABCC6):c.4216C>A (p.Gln1406Lys) rs387906859
NM_001171.5(ABCC6):c.450dup (p.Ala151fs) rs387906860

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