ClinVar Miner

List of variants in gene combination LOC129992886, MANBA reported as likely benign for bone disorder

Included ClinVar conditions (1436):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_005908.4(MANBA):c.9C>T (p.Leu3=) rs377551177 0.00021
NM_005908.4(MANBA):c.12C>T (p.His4=) rs757557908 0.00005
NM_005908.4(MANBA):c.15G>C (p.Leu5=) rs1341429657 0.00003
NM_005908.4(MANBA):c.123C>A (p.Pro41=) rs769798393 0.00002
NM_005908.4(MANBA):c.132C>T (p.Val44=) rs1396832537 0.00002
NM_005908.4(MANBA):c.111G>T (p.Ser37=) rs927918838 0.00001
NM_005908.4(MANBA):c.126G>A (p.Gly42=) rs1392022077 0.00001
NM_005908.4(MANBA):c.168C>T (p.Gly56=) rs373360398 0.00001
NM_005908.4(MANBA):c.169C>T (p.Leu57=) rs1349054936 0.00001
NM_005908.4(MANBA):c.30G>A (p.Ala10=) rs777984508 0.00001
NM_005908.4(MANBA):c.102G>A (p.Gly34=) rs1192993013
NM_005908.4(MANBA):c.102G>C (p.Gly34=) rs1192993013
NM_005908.4(MANBA):c.120G>A (p.Leu40=) rs1373838394
NM_005908.4(MANBA):c.135T>G (p.Pro45=) rs1256466080
NM_005908.4(MANBA):c.13C>T (p.Leu5=) rs2477036922
NM_005908.4(MANBA):c.15G>A (p.Leu5=) rs1341429657
NM_005908.4(MANBA):c.162G>A (p.Gln54=) rs2477035736
NM_005908.4(MANBA):c.177+12G>C rs2477035577
NM_005908.4(MANBA):c.177+14C>A rs2477035571
NM_005908.4(MANBA):c.177+18C>T rs2110217525
NM_005908.4(MANBA):c.177+19C>A rs2477035544
NM_005908.4(MANBA):c.177+19C>G rs2477035544
NM_005908.4(MANBA):c.177+20C>T rs1340129591
NM_005908.4(MANBA):c.177+7C>A rs1724207859
NM_005908.4(MANBA):c.177+7C>G rs1724207859
NM_005908.4(MANBA):c.27C>A (p.Leu9=) rs149830550
NM_005908.4(MANBA):c.33G>A (p.Leu11=) rs2477036769
NM_005908.4(MANBA):c.39T>G (p.Gly13=) rs1724219605
NM_005908.4(MANBA):c.42A>G (p.Ala14=) rs753125004
NM_005908.4(MANBA):c.51C>A (p.Thr17=) rs1316924248
NM_005908.4(MANBA):c.51C>T (p.Thr17=) rs1316924248
NM_005908.4(MANBA):c.54C>A (p.Ala18=) rs1724216978
NM_005908.4(MANBA):c.54C>T (p.Ala18=) rs1724216978
NM_005908.4(MANBA):c.84C>T (p.Asn28=) rs1158468345
NM_005908.4(MANBA):c.99T>C (p.Asn33=)

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