ClinVar Miner

List of variants in gene MBD5 reported as uncertain significance by Ambry Genetics

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Total variants: 14
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HGVS dbSNP
NM_018328.4(MBD5):c.1895T>C (p.Leu632Pro) rs1553518674
NM_018328.4(MBD5):c.2279A>G (p.His760Arg) rs763275881
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.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.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.884C>G (p.Thr295Ser) rs368339420
NM_018328.4(MBD5):c.961A>G (p.Met321Val) rs369869865

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