ClinVar Miner

List of variants in gene MBD5 reported as uncertain significance for Inborn genetic diseases

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln) rs149278000 0.00020
NM_001378120.1(MBD5):c.1234G>A (p.Val412Ile) rs761118931 0.00019
NM_001378120.1(MBD5):c.763C>T (p.Pro255Ser) rs183855575 0.00012
NM_001378120.1(MBD5):c.2279A>G (p.His760Arg) rs763275881 0.00011
NM_001378120.1(MBD5):c.274G>A (p.Ala92Thr) rs770801894 0.00004
NM_001378120.1(MBD5):c.1304C>T (p.Ser435Phe) rs768225923 0.00003
NM_001378120.1(MBD5):c.884C>G (p.Thr295Ser) rs368339420 0.00003
NM_001378120.1(MBD5):c.961A>G (p.Met321Val) rs369869865 0.00003
NM_001378120.1(MBD5):c.1406A>G (p.His469Arg) rs766571687 0.00001
NM_001378120.1(MBD5):c.60A>G (p.Gln20=) rs1057522537 0.00001
NM_001378120.1(MBD5):c.742G>C (p.Asp248His) rs753529014 0.00001
NM_001378120.1(MBD5):c.1237A>G (p.Lys413Glu)
NM_001378120.1(MBD5):c.1249A>G (p.Met417Val) rs1250224277
NM_001378120.1(MBD5):c.1252A>T (p.Asn418Tyr)
NM_001378120.1(MBD5):c.1266T>G (p.His422Gln)
NM_001378120.1(MBD5):c.1609A>G (p.Ser537Gly)
NM_001378120.1(MBD5):c.1859T>C (p.Leu620Ser)
NM_001378120.1(MBD5):c.1895T>C (p.Leu632Pro) rs1553518674
NM_001378120.1(MBD5):c.1928C>T (p.Ala643Val)
NM_001378120.1(MBD5):c.1985C>A (p.Pro662Gln) rs1280684603
NM_001378120.1(MBD5):c.2093T>C (p.Ile698Thr)
NM_001378120.1(MBD5):c.2219C>G (p.Thr740Arg)
NM_001378120.1(MBD5):c.2312G>A (p.Ser771Asn)
NM_001378120.1(MBD5):c.2336A>G (p.His779Arg)
NM_001378120.1(MBD5):c.2399G>C (p.Gly800Ala) rs201668347
NM_001378120.1(MBD5):c.2429A>G (p.Asn810Ser) rs754126406
NM_001378120.1(MBD5):c.2565C>G (p.His855Gln) rs2105071741
NM_001378120.1(MBD5):c.2689G>A (p.Ala897Thr) rs778516851
NM_001378120.1(MBD5):c.3642A>T (p.Gln1214His) rs1465735521
NM_001378120.1(MBD5):c.4027A>G (p.Ser1343Gly)
NM_001378120.1(MBD5):c.40G>A (p.Gly14Arg)
NM_001378120.1(MBD5):c.4127T>A (p.Val1376Asp) rs1227323118
NM_001378120.1(MBD5):c.433C>G (p.Pro145Ala)
NM_001378120.1(MBD5):c.4474A>C (p.Ile1492Leu) rs370231736
NM_001378120.1(MBD5):c.4492A>G (p.Arg1498Gly) rs1165120864
NM_001378120.1(MBD5):c.4634T>C (p.Leu1545Pro) rs1474107442
NM_001378120.1(MBD5):c.4657A>G (p.Ser1553Gly)
NM_001378120.1(MBD5):c.5009A>G (p.Tyr1670Cys)
NM_001378120.1(MBD5):c.5020C>T (p.Arg1674Trp) rs1393532031
NM_001378120.1(MBD5):c.5135A>G (p.Asp1712Gly) rs1559110260
NM_001378120.1(MBD5):c.557T>C (p.Leu186Pro) rs1559085569
NM_001378120.1(MBD5):c.817C>G (p.Leu273Val) rs776894242
NM_001378120.1(MBD5):c.832G>A (p.Val278Ile) rs531157663
NM_001378120.1(MBD5):c.877G>A (p.Gly293Arg) rs1680681722
NM_001378120.1(MBD5):c.880A>G (p.Arg294Gly)
NM_001378120.1(MBD5):c.937C>A (p.Pro313Thr)
NM_001378120.1(MBD5):c.991A>G (p.Lys331Glu)

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