ClinVar Miner

List of variants in gene MBD5 reported as benign by GeneDx

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Gene type:
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Total variants: 48
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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.-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.599G>A (p.Arg200Gln) rs149278000 0.00020
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.2274C>T (p.Ala758=) rs374820728 0.00002
NM_001378120.1(MBD5):c.1111C>G (p.Gln371Glu) rs536900412 0.00001
NM_001378120.1(MBD5):c.398-12C>T rs556768118 0.00001
NM_001378120.1(MBD5):c.-660A>T rs888498386
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.5037-198dup rs151097491

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