ClinVar Miner

List of variants in gene MBD5 reported by Ambry Genetics

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Total variants: 38
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HGVS dbSNP
NM_018328.4(MBD5):c.1111C>G (p.Gln371Glu) rs536900412
NM_018328.4(MBD5):c.1368G>T (p.Ser456=) rs146020786
NM_018328.4(MBD5):c.1535C>T (p.Ser512Phe) rs201695275
NM_018328.4(MBD5):c.1596A>G (p.Val532=) rs114611333
NM_018328.4(MBD5):c.1638C>T (p.Ala546=) rs116413446
NM_018328.4(MBD5):c.1895T>C (p.Leu632Pro) rs1553518674
NM_018328.4(MBD5):c.1971G>A (p.Arg657=) rs1559087514
NM_018328.4(MBD5):c.2030G>A (p.Ser677Asn) rs114314967
NM_018328.4(MBD5):c.2162C>T (p.Pro721Leu) rs138639760
NM_018328.4(MBD5):c.2254A>G (p.Ile752Val) rs147455836
NM_018328.4(MBD5):c.2279A>G (p.His760Arg) rs763275881
NM_018328.4(MBD5):c.236G>A (p.Gly79Glu) rs34995577
NM_018328.4(MBD5):c.2399G>C (p.Gly800Ala)
NM_018328.4(MBD5):c.2605G>A (p.Val869Ile) rs116207524
NM_018328.4(MBD5):c.274G>A (p.Ala92Thr) rs770801894
NM_018328.4(MBD5):c.2978A>C (p.Gln993Pro) rs761395486
NM_018328.4(MBD5):c.297A>G (p.Leu99=) rs77213206
NM_018328.4(MBD5):c.3044A>G (p.Gln1015Arg) rs143028540
NM_018328.4(MBD5):c.3138C>T (p.Asn1046=) rs772658882
NM_018328.4(MBD5):c.3143C>T (p.Thr1048Ile) rs145475623
NM_018328.4(MBD5):c.3220G>A (p.Gly1074Ser)
NM_018328.4(MBD5):c.3243T>A (p.Gly1081=) rs115816749
NM_018328.4(MBD5):c.3702C>T (p.Val1234=) rs144957555
NM_018328.4(MBD5):c.3775A>C (p.Ile1259Leu)
NM_018328.4(MBD5):c.3793A>G (p.Arg1265Gly) rs1165120864
NM_018328.4(MBD5):c.3896G>A (p.Arg1299Gln) rs35934694
NM_018328.4(MBD5):c.4038T>C (p.Asn1346=) rs147744781
NM_018328.4(MBD5):c.422G>A (p.Arg141Gln) rs200245855
NM_018328.4(MBD5):c.4321C>T (p.Arg1441Trp) rs1393532031
NM_018328.4(MBD5):c.4436A>G (p.Asp1479Gly) rs1559110260
NM_018328.4(MBD5):c.557T>C (p.Leu186Pro) rs1559085569
NM_018328.4(MBD5):c.60A>G (p.Gln20=) rs1057522537
NM_018328.4(MBD5):c.675G>A (p.Ala225=) rs775582219
NM_018328.4(MBD5):c.69G>A (p.Val23=) rs151204004
NM_018328.4(MBD5):c.75G>A (p.Trp25Ter) rs1553517456
NM_018328.4(MBD5):c.884C>G (p.Thr295Ser) rs368339420
NM_018328.4(MBD5):c.961A>G (p.Met321Val) rs369869865
NM_018328.4(MBD5):c.973C>T (p.Arg325Ter) rs1553518509

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