ClinVar Miner

List of variants in gene LMBRD1 studied for Inborn genetic diseases

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs) rs749272546 0.00062
NM_018368.4(LMBRD1):c.904C>T (p.Arg302Cys) rs376456203 0.00016
NM_018368.4(LMBRD1):c.688G>A (p.Ala230Thr) rs376081191 0.00010
NM_018368.4(LMBRD1):c.802G>A (p.Ala268Thr) rs143758103 0.00008
NM_018368.4(LMBRD1):c.1338+2T>C rs147270670 0.00007
NM_018368.4(LMBRD1):c.1343A>C (p.Asn448Thr) rs375328924 0.00006
NM_018368.4(LMBRD1):c.562C>T (p.His188Tyr) rs554554993 0.00006
NM_018368.4(LMBRD1):c.416C>T (p.Thr139Met) rs767657325 0.00005
NM_018368.4(LMBRD1):c.1501T>C (p.Phe501Leu) rs776133587 0.00004
NM_018368.4(LMBRD1):c.1556C>T (p.Ser519Leu) rs373481039 0.00004
NM_018368.4(LMBRD1):c.73A>G (p.Ile25Val) rs772119224 0.00004
NM_018368.4(LMBRD1):c.115C>T (p.Arg39Trp) rs748879055 0.00001
NM_018368.4(LMBRD1):c.1214C>G (p.Thr405Ser) rs561265847 0.00001
NM_018368.4(LMBRD1):c.1286A>G (p.Tyr429Cys)
NM_018368.4(LMBRD1):c.1403C>T (p.Ala468Val)
NM_018368.4(LMBRD1):c.1442A>G (p.Tyr481Cys)
NM_018368.4(LMBRD1):c.1478C>A (p.Ala493Asp)
NM_018368.4(LMBRD1):c.1531G>A (p.Val511Ile)
NM_018368.4(LMBRD1):c.1577A>G (p.Glu526Gly) rs761378514
NM_018368.4(LMBRD1):c.176T>G (p.Ile59Ser)
NM_018368.4(LMBRD1):c.32T>C (p.Leu11Pro)
NM_018368.4(LMBRD1):c.332G>A (p.Cys111Tyr)
NM_018368.4(LMBRD1):c.374A>C (p.Glu125Ala)
NM_018368.4(LMBRD1):c.500A>G (p.Asn167Ser)
NM_018368.4(LMBRD1):c.529G>A (p.Val177Met)
NM_018368.4(LMBRD1):c.549A>T (p.Glu183Asp)
NM_018368.4(LMBRD1):c.614T>C (p.Met205Thr)
NM_018368.4(LMBRD1):c.65T>G (p.Leu22Arg)
NM_018368.4(LMBRD1):c.713C>G (p.Thr238Ser)
NM_018368.4(LMBRD1):c.737A>G (p.Gln246Arg)
NM_018368.4(LMBRD1):c.73A>C (p.Ile25Leu)
NM_018368.4(LMBRD1):c.776G>A (p.Arg259Gln)
NM_018368.4(LMBRD1):c.959T>C (p.Val320Ala)
NM_018368.4(LMBRD1):c.964T>C (p.Ser322Pro)

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