ClinVar Miner

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

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_018368.4(LMBRD1):c.-88C>G rs557851763
NM_018368.4(LMBRD1):c.1023C>T (p.Phe341=) rs765215874
NM_018368.4(LMBRD1):c.1189-4C>T
NM_018368.4(LMBRD1):c.1192T>C (p.Tyr398His) rs185334169
NM_018368.4(LMBRD1):c.1206A>G (p.Arg402=) rs779802824
NM_018368.4(LMBRD1):c.1410T>G (p.Ala470=) rs761693513
NM_018368.4(LMBRD1):c.247-8T>A
NM_018368.4(LMBRD1):c.291A>G (p.Val97=) rs752864942
NM_018368.4(LMBRD1):c.378G>C (p.Lys126Asn) rs200639044
NM_018368.4(LMBRD1):c.384T>C (p.Asp128=) rs143642515
NM_018368.4(LMBRD1):c.405+8T>C rs375415974
NM_018368.4(LMBRD1):c.540A>G (p.Leu180=) rs138374055
NM_018368.4(LMBRD1):c.636+14G>T
NM_018368.4(LMBRD1):c.6G>A (p.Ala2=)

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