ClinVar Miner

List of variants in gene LMBRD1 reported as benign for classic organic aciduria

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_018368.4(LMBRD1):c.*341C>T rs9185 0.56654
NM_018368.4(LMBRD1):c.1509+22G>A rs3214021 0.35441
NM_018368.4(LMBRD1):c.1407T>A (p.Asp469Glu) rs12648 0.32715
NM_018368.4(LMBRD1):c.980+11T>C rs114726590 0.01756
NM_018368.4(LMBRD1):c.801C>T (p.Arg267=) rs34327883 0.01106
NM_018368.4(LMBRD1):c.*395T>C rs80330045 0.00583
NM_018368.4(LMBRD1):c.1509+20G>C rs116095397 0.00424
NM_018368.4(LMBRD1):c.-18T>A rs202192515 0.00384
NM_018368.4(LMBRD1):c.562+18T>A rs183663902 0.00364
NM_018368.4(LMBRD1):c.18G>C (p.Ala6=) rs149650795 0.00341
NM_018368.4(LMBRD1):c.981-11A>T rs75847296 0.00092
NM_018368.4(LMBRD1):c.1509+19C>T rs200824654 0.00083
NM_018368.4(LMBRD1):c.1510-17C>T rs149064101 0.00022
NM_018368.4(LMBRD1):c.1188+17del rs538437940 0.00008
NM_018368.4(LMBRD1):c.636+14G>T rs376670737 0.00007
NM_018368.4(LMBRD1):c.-117C>T rs550933505 0.00005
NM_018368.4(LMBRD1):c.750G>A (p.Thr250=) rs529198629 0.00004
NM_018368.4(LMBRD1):c.1084-4del rs757172535
NM_018368.4(LMBRD1):c.1084-5_1084-4dup
NM_018368.4(LMBRD1):c.562+18del
NM_018368.4(LMBRD1):c.562+18dup
NM_018368.4(LMBRD1):c.563-13del
NM_018368.4(LMBRD1):c.981-10dup rs202207965
NM_018368.4(LMBRD1):c.981-3del

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