ClinVar Miner

List of variants reported as pathogenic for Autosomal recessive osteopetrosis 1 by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_006019.4(TCIRG1):c.971dup (p.Cys324fs)	rs1565156743	0.00001
NM_006019.4(TCIRG1):c.688C>T (p.Gln230Ter)	rs1156299579

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