ClinVar Miner

List of variants reported as pathogenic for Osteopetrosis autosomal recessive 1 by OMIM

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Total variants: 7
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NM_006019.3(TCIRG1):c.649_674del (p.Met217Terfs)
NM_006019.4(TCIRG1):c.117+4A>T rs751881962
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg) rs137853150
NM_006019.4(TCIRG1):c.1331G>T (p.Arg444Leu) rs137853151
NM_006019.4(TCIRG1):c.1392C>A (p.Cys464Ter) rs137853149
NM_006019.4(TCIRG1):c.1674G>A (p.Val558=) rs745971874
NM_006019.4(TCIRG1):c.922del (p.Gln308fs) rs1554996130

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