ClinVar Miner

List of variants reported as pathogenic for arterial calcification of infancy by Baylor Genetics

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter) rs72653706 0.00122
NM_001171.6(ABCC6):c.2787+1G>T rs72664209 0.00017
NM_006208.3(ENPP1):c.1441C>T (p.Arg481Trp) rs373044722 0.00001

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