ClinVar Miner

List of variants in gene MBD5 reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 39
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HGVS dbSNP
NM_018328.4(MBD5):c.1094C>T (p.Pro365Leu) rs794727974
NM_018328.4(MBD5):c.1198G>A (p.Val400Ile) rs377568191
NM_018328.4(MBD5):c.1341G>A (p.Gly447=) rs886044445
NM_018328.4(MBD5):c.1406A>G (p.His469Arg) rs766571687
NM_018328.4(MBD5):c.1570C>T (p.Pro524Ser) rs727503998
NM_018328.4(MBD5):c.1837A>G (p.Asn613Asp) rs398124341
NM_018328.4(MBD5):c.1955A>G (p.Gln652Arg) rs398124342
NM_018328.4(MBD5):c.2010C>G (p.Leu670=) rs371014306
NM_018328.4(MBD5):c.2101A>G (p.Met701Val) rs398124343
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.258C>T (p.Thr86=) rs542137271
NM_018328.4(MBD5):c.2711G>A (p.Ser904Asn) rs398124344
NM_018328.4(MBD5):c.276A>G (p.Ala92=) rs141855494
NM_018328.4(MBD5):c.2840G>A (p.Gly947Glu) rs114359726
NM_018328.4(MBD5):c.2903C>T (p.Ser968Leu) rs200985982
NM_018328.4(MBD5):c.2904G>T (p.Ser968=) rs138058889
NM_018328.4(MBD5):c.2979G>C (p.Gln993His) rs148321416
NM_018328.4(MBD5):c.3143C>T (p.Thr1048Ile) rs145475623
NM_018328.4(MBD5):c.3494G>A (p.Arg1165Gln) rs727503999
NM_018328.4(MBD5):c.3559T>G (p.Ser1187Ala) rs756608508
NM_018328.4(MBD5):c.3572A>G (p.His1191Arg) rs794727071
NM_018328.4(MBD5):c.3605G>A (p.Ser1202Asn) rs794727072
NM_018328.4(MBD5):c.3776T>G (p.Ile1259Ser) rs762922278
NM_018328.4(MBD5):c.3887G>A (p.Arg1296Gln) rs727504000
NM_018328.4(MBD5):c.3898G>A (p.Gly1300Arg) rs747948310
NM_018328.4(MBD5):c.3930A>G (p.Gln1310=) rs115145637
NM_018328.4(MBD5):c.4032C>T (p.Ser1344=) rs777735514
NM_018328.4(MBD5):c.4188G>A (p.Leu1396=) rs779662045
NM_018328.4(MBD5):c.4264-10C>A
NM_018328.4(MBD5):c.476C>T (p.Ser159Phe) rs780774076
NM_018328.4(MBD5):c.599G>A (p.Arg200Gln) rs149278000
NM_018328.4(MBD5):c.664C>T (p.Pro222Ser) rs772393394
NM_018328.4(MBD5):c.692T>C (p.Ile231Thr) rs199530726
NM_018328.4(MBD5):c.69G>A (p.Val23=) rs151204004
NM_018328.4(MBD5):c.720G>A (p.Arg240=) rs727503997
NM_018328.4(MBD5):c.796A>G (p.Ile266Val) rs568826753
NM_018328.4(MBD5):c.8G>T (p.Gly3Val) rs794727807
NM_018328.4(MBD5):c.980T>C (p.Met327Thr) rs776228346

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