ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP
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.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.379del (p.Ser127fs) rs1553517984
NM_018328.4(MBD5):c.397+1G>A rs1553517991
NM_018328.4(MBD5):c.4455del (p.Lys1486fs) rs1060501151
NM_018328.5(MBD5):c.698del (p.Gly233fs)

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