ClinVar Miner

List of variants studied for Osteopetrosis with renal tubular acidosis by Fulgent Genetics, Fulgent Genetics

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Total variants: 58
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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.35-7C>A rs371766356 0.00012
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.657C>T (p.Ser219=) rs148054811 0.00005
NM_000067.3(CA2):c.445G>A (p.Val149Ile) rs186437298 0.00003
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.102C>A (p.Asp34Glu)
NM_000067.3(CA2):c.152A>G (p.Tyr51Cys)
NM_000067.3(CA2):c.165_166insGAGGA (p.Ser56fs)
NM_000067.3(CA2):c.190C>T (p.His64Tyr)
NM_000067.3(CA2):c.199A>G (p.Asn67Asp)
NM_000067.3(CA2):c.201C>G (p.Asn67Lys)
NM_000067.3(CA2):c.209T>C (p.Phe70Ser)
NM_000067.3(CA2):c.232+1G>A rs573750741
NM_000067.3(CA2):c.233-1G>A
NM_000067.3(CA2):c.233-7A>C
NM_000067.3(CA2):c.281A>G (p.His94Arg) rs2130558149
NM_000067.3(CA2):c.314C>G (p.Ser105Ter)
NM_000067.3(CA2):c.34+16G>C
NM_000067.3(CA2):c.352-8G>A
NM_000067.3(CA2):c.35G>A (p.Gly12Glu)
NM_000067.3(CA2):c.409C>A (p.Pro137Thr)
NM_000067.3(CA2):c.434T>C (p.Ile145Thr)
NM_000067.3(CA2):c.445-2_445-1delinsTC
NM_000067.3(CA2):c.445-3T>C
NM_000067.3(CA2):c.461C>A (p.Pro154Gln)
NM_000067.3(CA2):c.484G>A (p.Val162Met)
NM_000067.3(CA2):c.517G>T (p.Ala173Ser)
NM_000067.3(CA2):c.541C>G (p.Arg181Gly)
NM_000067.3(CA2):c.542G>A (p.Arg181His)
NM_000067.3(CA2):c.545G>T (p.Gly182Val)
NM_000067.3(CA2):c.575C>T (p.Thr192Ile) rs369229469
NM_000067.3(CA2):c.5C>A (p.Ser2Tyr)
NM_000067.3(CA2):c.608T>A (p.Leu203Gln)
NM_000067.3(CA2):c.610G>T (p.Glu204Ter)
NM_000067.3(CA2):c.612A>T (p.Glu204Asp)
NM_000067.3(CA2):c.637G>A (p.Glu213Lys)
NM_000067.3(CA2):c.641C>G (p.Pro214Arg)
NM_000067.3(CA2):c.651C>G (p.Val217=)
NM_000067.3(CA2):c.672del (p.Lys224fs)
NM_000067.3(CA2):c.681del (p.Lys227fs) rs779869368
NM_000067.3(CA2):c.694G>A (p.Gly232Arg)
NM_000067.3(CA2):c.697G>A (p.Glu233Lys)
NM_000067.3(CA2):c.752A>T (p.Lys251Met)
NM_000067.3(CA2):c.757A>G (p.Arg253Gly)
NM_000067.3(CA2):c.88C>T (p.Pro30Ser)

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