ClinVar Miner

List of variants studied for autosomal recessive osteopetrosis 3

Included ClinVar conditions (1):
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Minimum conflict level:
ClinVar version:
Total variants: 93
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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
NM_000067.2(CA2):c.-138G>A rs557422827 0.00101
NM_000067.3(CA2):c.*17G>A rs140653628 0.00074
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.462G>A (p.Pro154=) rs140623407 0.00029
NM_000067.3(CA2):c.*624T>C rs533282871 0.00027
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.*173T>C rs1041356270 0.00008
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.472A>G (p.Lys158Glu) rs145667849 0.00003
NM_000067.3(CA2):c.648C>T (p.Ser216=) rs376387073 0.00003
NM_000067.3(CA2):c.-53G>T rs886063148 0.00002
NM_000067.2(CA2):c.-176C>T rs886063146 0.00001
NM_000067.2(CA2):c.-84_-82dup rs886063147 0.00001
NM_000067.3(CA2):c.*562T>C rs886063153 0.00001
NM_000067.3(CA2):c.-43G>C rs556311734 0.00001
NM_000067.3(CA2):c.192T>C (p.His64=) rs759693878 0.00001
NM_000067.3(CA2):c.311G>T (p.Gly104Val) rs760867064 0.00001
NM_000067.3(CA2):c.319C>T (p.His107Tyr) rs118203933 0.00001
NM_000067.3(CA2):c.339A>G (p.Lys113=) rs370128128 0.00001
NM_000067.3(CA2):c.40G>A (p.Glu14Lys) rs758659684 0.00001
NM_000067.3(CA2):c.453C>T (p.Ser151=) rs189189209 0.00001
NM_000067.3(CA2):c.508-1G>C rs1444065478 0.00001
NM_000067.3(CA2):c.539C>T (p.Pro180Leu) rs886063150 0.00001
NM_000067.3(CA2):c.87C>T (p.Ser29=) rs777914836 0.00001
NM_000067.2(CA2):c.-130C>A rs570970117
NM_000067.3(CA2):c.*374A>G rs886063151
NM_000067.3(CA2):c.*465A>C rs886063152
NM_000067.3(CA2):c.*535T>C rs1811887892
NM_000067.3(CA2):c.102C>A (p.Asp34Glu)
NM_000067.3(CA2):c.120T>G (p.Tyr40Ter) rs118203934
NM_000067.3(CA2):c.143_146del (p.Ser48fs) rs1564077060
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.21C>A (p.Tyr7Ter) rs1554709677
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.275A>C (p.Gln92Pro) rs1304160279
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.508-7G>A rs886063149
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.579C>G (p.Tyr193Ter) rs1203921376
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.621del (p.Trp208fs)
NM_000067.3(CA2):c.630_641delinsCACA (p.Leu211fs)
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.74G>A (p.Gly25Glu) rs1811610973
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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