ClinVar Miner

List of variants in gene MBD5 reported as benign

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Gene type:
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Total variants: 115
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HGVS dbSNP gnomAD frequency
NM_001378120.1(MBD5):c.3545-51G>A rs2121344 0.57748
NM_001378120.1(MBD5):c.-924-89A>C rs12465610 0.30343
NM_001378120.1(MBD5):c.*200A>G rs16828708 0.28537
NM_001378120.1(MBD5):c.-557+247T>C rs2602352 0.26966
NM_001378120.1(MBD5):c.-557+197A>T rs35177340 0.25018
NM_001378120.1(MBD5):c.113+221A>G rs10928397 0.19908
NM_001378120.1(MBD5):c.114-168T>G rs13402768 0.13753
NM_001378120.1(MBD5):c.3754-48dup rs111476224 0.09545
NM_001378120.1(MBD5):c.398-286C>T rs56200529 0.07330
NM_001378120.1(MBD5):c.4963-56G>A rs73003524 0.07035
NM_001378120.1(MBD5):c.4963-57C>T rs80229097 0.03895
NM_001378120.1(MBD5):c.4963-136A>G rs115609480 0.03662
NM_001378120.1(MBD5):c.4962+250A>C rs7574808 0.02409
NM_001378120.1(MBD5):c.2519-18T>G rs555177897 0.00625
NM_001378120.1(MBD5):c.1596A>G (p.Val532=) rs114611333 0.00588
NM_001378120.1(MBD5):c.297A>G (p.Leu99=) rs77213206 0.00431
NM_001378120.1(MBD5):c.-829A>G rs186186684 0.00397
NM_001378120.1(MBD5):c.-556-8T>C rs140968376 0.00355
NM_001378120.1(MBD5):c.1638C>T (p.Ala546=) rs116413446 0.00337
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.3112A>G (p.Ser1038Gly) rs562128787 0.00123
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.3754-9T>C rs370173652 0.00100
NM_001378120.1(MBD5):c.4595G>A (p.Arg1532Gln) rs35934694 0.00074
NM_001378120.1(MBD5):c.216+48T>A rs111722958 0.00073
NM_001378120.1(MBD5):c.3743A>G (p.Gln1248Arg) rs143028540 0.00068
NM_001378120.1(MBD5):c.-831+9dup rs796052705 0.00061
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu) rs34995577 0.00061
NM_001378120.1(MBD5):c.4629A>G (p.Gln1543=) rs115145637 0.00049
NM_001378120.1(MBD5):c.1382G>A (p.Arg461His) rs139964770 0.00042
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.4009A>G (p.Ile1337Val) rs115940994 0.00028
NM_001378120.1(MBD5):c.2518+47A>G rs371331451 0.00026
NM_001378120.1(MBD5):c.69G>A (p.Val23=) rs151204004 0.00024
NM_001378120.1(MBD5):c.276A>G (p.Ala92=) rs141855494 0.00022
NM_001378120.1(MBD5):c.2162C>T (p.Pro721Leu) rs138639760 0.00021
NM_001378120.1(MBD5):c.1535C>T (p.Ser512Phe) rs201695275 0.00020
NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln) rs149278000 0.00020
NM_001378120.1(MBD5):c.3678G>C (p.Gln1226His) rs148321416 0.00015
NM_001378120.1(MBD5):c.4963-11C>T rs147291009 0.00015
NM_001378120.1(MBD5):c.217-16G>C rs377517776 0.00011
NM_001378120.1(MBD5):c.2279A>G (p.His760Arg) rs763275881 0.00011
NM_001378120.1(MBD5):c.3793A>T (p.Ile1265Leu) rs774513612 0.00011
NM_001378120.1(MBD5):c.2275G>A (p.Val759Met) rs377604964 0.00009
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.4294G>A (p.Gly1432Arg) rs201334086 0.00007
NM_001378120.1(MBD5):c.3919G>A (p.Gly1307Ser) rs150972614 0.00006
NM_001378120.1(MBD5):c.2314A>C (p.Asn772His) rs200151142 0.00005
NM_001378120.1(MBD5):c.692T>C (p.Ile231Thr) rs199530726 0.00005
NM_001378120.1(MBD5):c.2399G>A (p.Gly800Asp) rs201668347 0.00004
NM_001378120.1(MBD5):c.3881C>T (p.Pro1294Leu) rs375158010 0.00004
NM_001378120.1(MBD5):c.3952G>A (p.Val1318Ile) rs199626531 0.00004
NM_001378120.1(MBD5):c.796A>G (p.Ile266Val) rs568826753 0.00004
NM_001378120.1(MBD5):c.2521G>A (p.Gly841Ser) rs752445724 0.00003
NM_001378120.1(MBD5):c.1377A>G (p.Arg459=) rs762047019 0.00002
NM_001378120.1(MBD5):c.2274C>T (p.Ala758=) rs374820728 0.00002
NM_001378120.1(MBD5):c.4084T>C (p.Ser1362Pro) rs200395037 0.00002
NM_001378120.1(MBD5):c.109G>A (p.Val37Ile) rs747911147 0.00001
NM_001378120.1(MBD5):c.1111C>G (p.Gln371Glu) rs536900412 0.00001
NM_001378120.1(MBD5):c.1963G>A (p.Ala655Thr) rs576930680 0.00001
NM_001378120.1(MBD5):c.2524T>C (p.Ser842Pro) rs144805912 0.00001
NM_001378120.1(MBD5):c.3925G>A (p.Val1309Ile) rs973326943 0.00001
NM_001378120.1(MBD5):c.396A>G (p.Thr132=) rs778891789 0.00001
NM_001378120.1(MBD5):c.398-12C>T rs556768118 0.00001
NM_001378120.1(MBD5):c.4121G>A (p.Ser1374Asn) rs763106823 0.00001
NM_001378120.1(MBD5):c.4199C>T (p.Pro1400Leu) rs1057522316 0.00001
NM_001378120.1(MBD5):c.4218G>A (p.Gly1406=) rs1014000010 0.00001
NM_001378120.1(MBD5):c.4231G>A (p.Glu1411Lys) rs571209967 0.00001
NM_001378120.1(MBD5):c.4438A>G (p.Ile1480Val) rs746105686 0.00001
NM_001378120.1(MBD5):c.4731C>T (p.Ser1577=) rs777735514 0.00001
NM_001378120.1(MBD5):c.785A>G (p.Asn262Ser) rs772659870 0.00001
GRCh37/hg19 2q23.1(chr2:148808568-148812188)x1
GRCh37/hg19 2q23.1(chr2:148808568-148814430)x1
GRCh37/hg19 2q23.1(chr2:148814430-148861205)x1
GRCh37/hg19 2q23.1(chr2:148860592-148974600)x3
GRCh37/hg19 2q23.1(chr2:149065242-149069742)x1
GRCh37/hg19 2q23.1(chr2:149065395-149069742)x1
GRCh37/hg19 2q23.1(chr2:149109237-149178974)x1
GRCh37/hg19 2q23.1(chr2:149131384-149162368)x1
GRCh37/hg19 2q23.1(chr2:149170115-149202550)x1
GRCh37/hg19 2q23.1(chr2:149198831-149204775)x1
GRCh37/hg19 2q23.1(chr2:149199613-149202176)x1
GRCh37/hg19 2q23.1(chr2:149201266-149202550)x0
GRCh37/hg19 2q23.1(chr2:149204841-149244732)x3
GRCh37/hg19 2q23.1(chr2:149204841-149266085)x3
GRCh37/hg19 2q23.1(chr2:149206411-149239689)x3
GRCh37/hg19 2q23.1(chr2:149206411-149242773)x3
GRCh37/hg19 2q23.1(chr2:149206411-149244732)x3
GRCh37/hg19 2q23.1(chr2:149206821-149266085)x3
GRCh37/hg19 2q23.1(chr2:149248413-149250399)x1
NM_001378120.1(MBD5):c.-660A>T rs888498386
NM_001378120.1(MBD5):c.1249A>G (p.Met417Val) rs1250224277
NM_001378120.1(MBD5):c.156A>G (p.Thr52=) rs796958008
NM_001378120.1(MBD5):c.1589G>A (p.Ser530Asn) rs558138423
NM_001378120.1(MBD5):c.1911G>T (p.Gly637=) rs772127604
NM_001378120.1(MBD5):c.2127T>A (p.Ser709Arg) rs763873615
NM_001378120.1(MBD5):c.2285A>G (p.His762Arg) rs2105641515
NM_001378120.1(MBD5):c.2416T>G (p.Ser806Ala) rs894958571
NM_001378120.1(MBD5):c.2519-10_2519-9del rs5835195
NM_001378120.1(MBD5):c.2519-9del rs5835195
NM_001378120.1(MBD5):c.2519-9dup rs5835195
NM_001378120.1(MBD5):c.2605G>A (p.Val869Ile) rs116207524
NM_001378120.1(MBD5):c.2859C>A (p.Ile953=)
NM_001378120.1(MBD5):c.3231T>C (p.Asn1077=)
NM_001378120.1(MBD5):c.4358G>A (p.Gly1453Asp) rs1197271060
NM_001378120.1(MBD5):c.5037-198dup rs151097491
NM_001378120.1(MBD5):c.5113-6T>G rs2105294854
NM_001378120.1(MBD5):c.644G>A (p.Arg215His) rs771325235
NM_001378120.1(MBD5):c.871A>G (p.Met291Val) rs1680681539

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