ClinVar Miner

List of variants in gene MANBA reported as benign for carbohydrate metabolism disease

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_005908.4(MANBA):c.*384C>T rs4019 0.55353
NM_005908.4(MANBA):c.*401G>A rs4013 0.55336
NM_005908.4(MANBA):c.2015-28G>A rs4547797 0.55331
NM_005908.4(MANBA):c.2368T>C (p.Leu790=) rs2272697 0.55313
NM_005908.4(MANBA):c.*124T>C rs3194585 0.55297
NM_005908.4(MANBA):c.*161C>T rs1054029 0.55296
NM_005908.4(MANBA):c.*505G>A rs1054037 0.54146
NM_005908.4(MANBA):c.757G>A (p.Val253Ile) rs227368 0.39095
NM_005908.4(MANBA):c.315G>A (p.Thr105=) rs6857760 0.10011
NM_005908.4(MANBA):c.*356G>A rs7672268 0.04355
NM_005908.4(MANBA):c.831A>G (p.Leu277=) rs17033168 0.04331
NM_005908.4(MANBA):c.*317A>G rs78514870 0.03053
NM_005908.4(MANBA):c.1482G>T (p.Leu494=) rs74718667 0.02371
NM_005908.4(MANBA):c.2482G>A (p.Val828Ile) rs75826658 0.01517
NM_005908.4(MANBA):c.2351C>G (p.Pro784Arg) rs116340501 0.01154
NM_005908.4(MANBA):c.178-8A>G rs113584126 0.01028
NM_005908.4(MANBA):c.2136G>A (p.Ser712=) rs149687835 0.00245
NM_005908.4(MANBA):c.2191G>A (p.Val731Met) rs150554352 0.00205
NM_005908.4(MANBA):c.2180C>T (p.Ser727Phe) rs147437033 0.00195
NM_005908.4(MANBA):c.1254C>G (p.Ala418=) rs139157403 0.00173
NM_005908.4(MANBA):c.479G>A (p.Arg160His) rs144917953 0.00088
NM_005908.4(MANBA):c.2246T>A (p.Leu749His) rs142248415 0.00076
NM_005908.4(MANBA):c.2014+14C>T rs192469727 0.00056
NM_005908.4(MANBA):c.2415+19G>A rs148719555 0.00054
NM_005908.4(MANBA):c.849+13A>C rs76954465 0.00011
NM_005908.4(MANBA):c.1512G>A (p.Thr504=) rs143694332 0.00001
NM_005908.4(MANBA):c.1318-13del
NM_005908.4(MANBA):c.1485+16del rs2110216761
NM_005908.4(MANBA):c.1485+9T>C rs199592616
NM_005908.4(MANBA):c.1704+10C>T
NM_005908.4(MANBA):c.1705-13C>A rs34754408
NM_005908.4(MANBA):c.1705-13C>T rs34754408
NM_005908.4(MANBA):c.2102C>T (p.Thr701Met) rs2866413
NM_005908.4(MANBA):c.2416-10del rs5860729
NM_005908.4(MANBA):c.2416-11_2416-10del rs5860729
NM_005908.4(MANBA):c.2416-20dup rs5860729
NM_005908.4(MANBA):c.2473G>T (p.Ala825Ser) rs182869272
NM_005908.4(MANBA):c.273-3del
NM_005908.4(MANBA):c.273-3dup

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