ClinVar Miner

List of variants studied for Autosomal recessive osteopetrosis 4 by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001287.6(CLCN7):c.857G>A (p.Arg286Gln) rs760956030 0.00004
NM_001287.6(CLCN7):c.739-18G>A rs371893553 0.00001
NM_001287.6(CLCN7):c.1394C>A (p.Ala465Asp) rs2505822019
NM_001287.6(CLCN7):c.1669+1G>C rs2505816525
NM_001287.6(CLCN7):c.1806C>G (p.Tyr602Ter) rs112753643
NM_001287.6(CLCN7):c.1810A>G (p.Met604Val)

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