ClinVar Miner

List of variants studied 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: 18
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HGVS dbSNP gnomAD frequency
NM_000067.3(CA2):c.754A>G (p.Asn252Asp) rs2228063 0.02817
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.541C>T (p.Arg181Cys) rs377003627 0.00009
NM_000067.3(CA2):c.677G>A (p.Arg226His) rs201928238 0.00009
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.709G>A (p.Glu237Lys) rs143666045 0.00007
NM_000067.3(CA2):c.444+18T>G rs544980486 0.00006
NM_000067.3(CA2):c.649G>A (p.Val217Ile) rs539558180 0.00005
NM_000067.3(CA2):c.648C>T (p.Ser216=) rs376387073 0.00003
NM_000067.3(CA2):c.192T>C (p.His64=) rs759693878 0.00001
NM_000067.3(CA2):c.339A>G (p.Lys113=) rs370128128 0.00001
NM_000067.3(CA2):c.453C>T (p.Ser151=) rs189189209 0.00001
NM_000067.3(CA2):c.281A>G (p.His94Arg) rs2130558149
NM_000067.3(CA2):c.575C>T (p.Thr192Ile) rs369229469
NM_000067.3(CA2):c.681del (p.Lys227fs) rs779869368

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