ClinVar Miner

List of variants reported as benign for autosomal recessive osteopetrosis 3

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000067.2(CA2):c.-181A>T rs11261477 0.98543
NM_000067.3(CA2):c.663+82A>C rs6605618 0.88940
NM_000067.3(CA2):c.562T>C (p.Leu188=) rs703 0.64073
NM_000067.3(CA2):c.754A>G (p.Asn252Asp) rs2228063 0.02817
NM_000067.3(CA2):c.*212A>G rs73263450 0.02796
NM_000067.3(CA2):c.*303C>T rs150089617 0.00878

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