ClinVar Miner

List of variants reported as pathogenic for autosomal recessive osteopetrosis 1 by 3billion

Included ClinVar conditions (2):

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_006019.4(TCIRG1):c.1674-1G>A	rs139617644	0.00019
NM_006019.4(TCIRG1):c.117+1G>A	rs377303800	0.00002
NM_006019.4(TCIRG1):c.480dup (p.Pro161fs)	rs1554995341

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