ClinVar Miner

List of variants in gene MBD5 reported as pathogenic

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Gene type:
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Total variants: 36
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HGVS dbSNP
GRCh37/hg19 2q23.1(chr2:148893782-149041073)x1
GRCh37/hg19 2q23.1(chr2:148894900-148979973)x1
GRCh37/hg19 2q23.1(chr2:148897424-148979973)x1
GRCh37/hg19 2q23.1(chr2:148957572-149100105)x1
GRCh37/hg19 2q23.1(chr2:148984799-149022674)x1
GRCh37/hg19 2q23.1(chr2:149094014-149166807)x1
GRCh37/hg19 2q23.1(chr2:149201266-149239392)x3
MBD5, THR157GLNFSTER4
NM_018328.4(MBD5):c.1000del (p.Gln334fs)
NM_018328.4(MBD5):c.1025dup (p.Ser343fs) rs1553518511
NM_018328.4(MBD5):c.1039C>T (p.Gln347Ter) rs1559086213
NM_018328.4(MBD5):c.1114_1115dup (p.Asn372fs) rs1553518527
NM_018328.4(MBD5):c.150del (p.Thr52fs) rs398122412
NM_018328.4(MBD5):c.1549C>T (p.Gln517Ter) rs1553518593
NM_018328.4(MBD5):c.1759C>T (p.Gln587Ter) rs1559087186
NM_018328.4(MBD5):c.2025_2028del (p.Met675fs) rs1131691713
NM_018328.4(MBD5):c.2299_2302del (p.Asn767fs) rs1060501153
NM_018328.4(MBD5):c.2321del (p.Pro774fs) rs1553518752
NM_018328.4(MBD5):c.2586_2667del (p.Ser863fs) rs1559094754
NM_018328.4(MBD5):c.2633del (p.Pro878fs) rs1553519853
NM_018328.4(MBD5):c.340_347del (p.Lys114fs) rs794727928
NM_018328.4(MBD5):c.361_362del (p.Pro121fs) rs1553517973
NM_018328.4(MBD5):c.3699dup (p.Val1234fs) rs1553520585
NM_018328.4(MBD5):c.379del (p.Ser127fs) rs1553517984
NM_018328.4(MBD5):c.397+1G>A rs1553517991
NM_018328.4(MBD5):c.4235C>A (p.Ser1412Ter) rs1559099927
NM_018328.4(MBD5):c.440C>G (p.Ser147Ter) rs886041003
NM_018328.4(MBD5):c.4455del (p.Lys1486fs) rs1060501151
NM_018328.4(MBD5):c.546T>G (p.Tyr182Ter) rs1559085550
NM_018328.4(MBD5):c.601C>T (p.Gln201Ter) rs200287454
NM_018328.4(MBD5):c.688C>T (p.Gln230Ter) rs1085307859
NM_018328.4(MBD5):c.75G>A (p.Trp25Ter) rs1553517456
NM_018328.4(MBD5):c.888_889TA[1] (p.Ile297fs) rs796052719
NM_018328.4(MBD5):c.973C>T (p.Arg325Ter) rs1553518509
Single allele
nsv513766

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