ClinVar Miner

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

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Total variants: 8
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HGVS dbSNP
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg) rs137853150
NM_006019.4(TCIRG1):c.1213G>C (p.Gly405Arg) rs137853150
NM_006019.4(TCIRG1):c.1276C>T (p.Arg426Ter) rs1489993984
NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter) rs777785526
NM_006019.4(TCIRG1):c.2008C>T (p.Arg670Ter) rs371263807
NM_006019.4(TCIRG1):c.2236+1G>A rs1475338876
NM_006019.4(TCIRG1):c.2236C>T (p.Gln746Ter) rs748659068
NM_006019.4(TCIRG1):c.630+2T>C rs1392364437

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