ClinVar Miner

List of variants in gene MBD5 reported as uncertain significance for not specified

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001378120.1(MBD5):c.4857C>T (p.Gly1619=) rs543329958 0.00015
NM_001378120.1(MBD5):c.1135A>G (p.Thr379Ala) rs959566693 0.00003
NM_001378120.1(MBD5):c.1633T>C (p.Ser545Pro) rs775791197 0.00003
NM_001378120.1(MBD5):c.2561A>G (p.Asn854Ser) rs1358383505 0.00002
NM_001378120.1(MBD5):c.2789A>C (p.Gln930Pro) rs564759063 0.00002
NM_001378120.1(MBD5):c.1850A>G (p.His617Arg) rs1370214658 0.00001
NM_001378120.1(MBD5):c.19T>A (p.Cys7Ser) rs766104877 0.00001
NM_001378120.1(MBD5):c.205A>G (p.Ile69Val) rs749163361 0.00001
NM_001378120.1(MBD5):c.2173G>T (p.Ala725Ser) rs747127657 0.00001
NM_001378120.1(MBD5):c.3754-6T>C rs149825755 0.00001
NM_001378120.1(MBD5):c.3791G>T (p.Arg1264Ile) rs1553520435 0.00001
NM_001378120.1(MBD5):c.4066A>G (p.Met1356Val) rs1057518375 0.00001
NM_001378120.1(MBD5):c.4671T>C (p.Ser1557=) rs765702142 0.00001
NM_001378120.1(MBD5):c.114-3C>T rs2105571139
NM_001378120.1(MBD5):c.1472G>C (p.Arg491Thr) rs1024254683
NM_001378120.1(MBD5):c.1504C>T (p.Pro502Ser)
NM_001378120.1(MBD5):c.4285C>G (p.Gln1429Glu) rs1681467295
NM_001378120.1(MBD5):c.4556G>A (p.Arg1519Lys) rs1057518363
NM_001378120.1(MBD5):c.5149C>G (p.Pro1717Ala) rs758847157
NM_001378120.1(MBD5):c.853G>A (p.Val285Ile)
NM_001378120.1(MBD5):c.908T>G (p.Leu303Trp) rs797045689
NM_018328.5:c.(-925+1_-924-1)_(-831+1_-830-1)del

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