ClinVar Miner

List of variants reported as pathogenic for 2q23.1 microdeletion syndrome

Included ClinVar conditions (1):
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Total variants: 24
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HGVS dbSNP
MBD5, THR157GLNFSTER4
NC_000002.10:g.(148432391_148447295)_(148651456_148737275)del
NC_000002.10:g.146798229_150310317del
NC_000002.10:g.148447496_149377297del
NC_000002.12:g.(?_148458739)_(148463939_?)del
NC_000002.12:g.(?_148458739)_(148512961_?)del
NC_000002.12:g.(?_148458759)_(148512941_?)del
NM_018328.4(MBD5):c.1000del (p.Gln334fs) rs1574459612
NM_018328.4(MBD5):c.1025dup (p.Ser343fs) rs1553518511
NM_018328.4(MBD5):c.150del (p.Thr52fs) rs398122412
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.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.888_889TA[1] (p.Ile297fs) rs796052719
NM_018328.5(MBD5):c.698del (p.Gly233fs)
NM_018328.5:c.728del
nsv513766

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