ClinVar Miner

List of variants studied for Arterial calcification, generalized, of infancy, 2 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001171.6(ABCC6):c.346-6G>A rs55778939 0.03265
GRCh37/hg19 16p13.11(chr16:16248791-16260443)
NM_001171.6(ABCC6):c.1853G>A (p.Ser618Asn)
NM_001171.6(ABCC6):c.4151T>C (p.Val1384Ala)

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