ClinVar Miner

List of variants in gene MBD5 reported as likely benign by Ambry Genetics

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Gene type:
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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_001378120.1(MBD5):c.3942T>A (p.Gly1314=) rs115816749 0.00290
NM_001378120.1(MBD5):c.2030G>A (p.Ser677Asn) rs114314967 0.00198
NM_001378120.1(MBD5):c.3978C>T (p.Val1326=) rs35692977 0.00123
NM_001378120.1(MBD5):c.1368G>T (p.Ser456=) rs146020786 0.00115
NM_001378120.1(MBD5):c.3743A>G (p.Gln1248Arg) rs143028540 0.00068
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu) rs34995577 0.00061
NM_001378120.1(MBD5):c.2254A>G (p.Ile752Val) rs147455836 0.00040
NM_001378120.1(MBD5):c.471A>G (p.Thr157=) rs138433455 0.00040
NM_001378120.1(MBD5):c.4401C>T (p.Val1467=) rs144957555 0.00038
NM_001378120.1(MBD5):c.3842C>T (p.Thr1281Ile) rs145475623 0.00034
NM_001378120.1(MBD5):c.69G>A (p.Val23=) rs151204004 0.00024
NM_001378120.1(MBD5):c.2010C>G (p.Leu670=) rs371014306 0.00021
NM_001378120.1(MBD5):c.1535C>T (p.Ser512Phe) rs201695275 0.00020
NM_001378120.1(MBD5):c.4857C>T (p.Gly1619=) rs543329958 0.00015
NM_001378120.1(MBD5):c.3793A>T (p.Ile1265Leu) rs774513612 0.00011
NM_001378120.1(MBD5):c.4189G>A (p.Ala1397Thr) rs534413662 0.00009
NM_001378120.1(MBD5):c.3677A>C (p.Gln1226Pro) rs761395486 0.00008
NM_001378120.1(MBD5):c.267T>C (p.Asp89=) rs143333632 0.00006
NM_001378120.1(MBD5):c.3919G>A (p.Gly1307Ser) rs150972614 0.00006
NM_001378120.1(MBD5):c.692T>C (p.Ile231Thr) rs199530726 0.00005
NM_001378120.1(MBD5):c.4970C>A (p.Pro1657His) rs775673512 0.00004
NM_001378120.1(MBD5):c.796A>G (p.Ile266Val) rs568826753 0.00004
NM_001378120.1(MBD5):c.1198G>A (p.Val400Ile) rs377568191 0.00003
NM_001378120.1(MBD5):c.2521G>A (p.Gly841Ser) rs752445724 0.00003
NM_001378120.1(MBD5):c.2543T>G (p.Ile848Arg) rs184415910 0.00003
NM_001378120.1(MBD5):c.422G>A (p.Arg141Gln) rs200245855 0.00003
NM_001378120.1(MBD5):c.709A>G (p.Ile237Val) rs751251720 0.00003
NM_001378120.1(MBD5):c.4084T>C (p.Ser1362Pro) rs200395037 0.00002
NM_001378120.1(MBD5):c.4138C>T (p.Arg1380Trp) rs142293829 0.00002
NM_001378120.1(MBD5):c.675G>A (p.Ala225=) rs775582219 0.00002
NM_001378120.1(MBD5):c.707C>T (p.Ser236Leu) rs766179352 0.00002
NM_001378120.1(MBD5):c.718A>G (p.Arg240Gly) rs767317924 0.00002
NM_001378120.1(MBD5):c.1828G>A (p.Gly610Ser) rs142495834 0.00001
NM_001378120.1(MBD5):c.1969C>T (p.Arg657Trp) rs112334672 0.00001
NM_001378120.1(MBD5):c.2011A>G (p.Arg671Gly) rs1376331579 0.00001
NM_001378120.1(MBD5):c.2558C>T (p.Thr853Ile) rs780490918 0.00001
NM_001378120.1(MBD5):c.2689G>T (p.Ala897Ser) rs778516851 0.00001
NM_001378120.1(MBD5):c.3882G>A (p.Pro1294=) rs752275705 0.00001
NM_001378120.1(MBD5):c.4131T>C (p.Ile1377=) rs1489981026 0.00001
NM_001378120.1(MBD5):c.4447C>A (p.Pro1483Thr) rs142913108 0.00001
NM_001378120.1(MBD5):c.4592G>T (p.Ser1531Ile) rs750493021 0.00001
NM_001378120.1(MBD5):c.4594C>T (p.Arg1532Trp) rs370659853 0.00001
NM_001378120.1(MBD5):c.4737T>C (p.Asn1579=) rs147744781 0.00001
NM_001378120.1(MBD5):c.4924G>A (p.Val1642Ile) rs770196931 0.00001
NM_001378120.1(MBD5):c.5015G>A (p.Arg1672His) rs150519311 0.00001
NM_001378120.1(MBD5):c.1402G>C (p.Asp468His)
NM_001378120.1(MBD5):c.1911G>T (p.Gly637=) rs772127604
NM_001378120.1(MBD5):c.1971G>A (p.Arg657=) rs1559087514
NM_001378120.1(MBD5):c.25G>A (p.Gly9Arg) rs143952512
NM_001378120.1(MBD5):c.25G>C (p.Gly9Arg) rs143952512
NM_001378120.1(MBD5):c.2630A>G (p.Asn877Ser)
NM_001378120.1(MBD5):c.3837C>T (p.Asn1279=) rs772658882
NM_001378120.1(MBD5):c.4396A>C (p.Asn1466His)
NM_001378120.1(MBD5):c.4471A>G (p.Lys1491Glu)
NM_001378120.1(MBD5):c.4842G>T (p.Arg1614Ser)
NM_001378120.1(MBD5):c.719G>T (p.Arg240Met)
NM_001378120.1(MBD5):c.853G>A (p.Val285Ile)
NM_001378120.1(MBD5):c.912T>A (p.Thr304=)

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