ClinVar Miner

List of variants in gene MBD5 reported as likely pathogenic

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Total variants: 15
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GRCh37/hg19 2q23.1(chr2:148815797-148997388)x3
GRCh37/hg19 2q23.1(chr2:148942537-149035397)x1
GRCh37/hg19 2q23.1(chr2:148957572-149027461)x1
GRCh38/hg38 2q23.1(chr2:148177218-148220153)x1
NM_018328.4(MBD5):c.1326dup (p.Val443fs) rs1553518563
NM_018328.4(MBD5):c.1811del (p.Asn604fs) rs1057518567
NM_018328.4(MBD5):c.236G>A (p.Gly79Glu) rs34995577
NM_018328.4(MBD5):c.2437C>T (p.Gln813Ter) rs1057524832
NM_018328.4(MBD5):c.3067G>T (p.Glu1023Ter) rs1064796473
NM_018328.4(MBD5):c.3143C>T (p.Thr1048Ile) rs145475623
NM_018328.4(MBD5):c.3619C>T (p.Arg1207Ter) rs978179634
NM_018328.4(MBD5):c.3999C>A (p.Tyr1333Ter) rs1553520624
NM_018328.4(MBD5):c.4276A>T (p.Lys1426Ter) rs1553521650

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