ClinVar Miner

List of variants in gene MBD5 reported as pathogenic by Invitae

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Gene type:
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Total variants: 9
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NM_018328.4(MBD5):c.1000del (p.Gln334fs)
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

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