ClinVar Miner

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

Included ClinVar conditions (3):

Arterial calcification, generalized, of infancy, 2
Autosomal recessive inherited pseudoxanthoma elasticum; Arterial calcification, generalized, of infancy, 2
Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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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

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