ClinVar Miner

List of variants reported as likely benign for autosomal recessive osteopetrosis 3 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000067.3(CA2):c.139C>T (p.Leu47=) rs145096347 0.00034
NM_000067.3(CA2):c.549C>G (p.Leu183=) rs151021025 0.00034
NM_000067.3(CA2):c.534C>T (p.Phe178=) rs17850824 0.00011
NM_000067.3(CA2):c.607C>A (p.Leu203Met) rs548376992 0.00007
NM_000067.3(CA2):c.618G>A (p.Val206=) rs369700367 0.00007
NM_000067.3(CA2):c.444+18T>G rs544980486 0.00006
NM_000067.3(CA2):c.648C>T (p.Ser216=) rs376387073 0.00003
NM_000067.3(CA2):c.453C>T (p.Ser151=) rs189189209 0.00001

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