ClinVar Miner

List of variants in gene MBD4 reported as likely pathogenic for not provided

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001276270.2(MBD4):c.1544-1G>T rs778697654 0.00005
NM_001276270.2(MBD4):c.1670T>A (p.Leu557Ter) rs200758755 0.00004
NM_001276270.2(MBD4):c.104+1G>A
NM_001276270.2(MBD4):c.105-2A>G
NM_001276270.2(MBD4):c.1183+13_1183+22del
NM_001276270.2(MBD4):c.1183+20T>C
NM_001276270.2(MBD4):c.1184-1G>A
NM_001276270.2(MBD4):c.1258+1G>A
NM_001276270.2(MBD4):c.1258+1G>T
NM_001276270.2(MBD4):c.1258+2T>C
NM_001276270.2(MBD4):c.1393+2T>C
NM_001276270.2(MBD4):c.1394-1_1394insA
NM_001276270.2(MBD4):c.1394-2A>G
NM_001276270.2(MBD4):c.1543+1G>A
NM_001276270.2(MBD4):c.1543+2T>G
NM_001276270.2(MBD4):c.1544-2A>G
NM_001276270.2(MBD4):c.335+1G>A
NM_001276270.2(MBD4):c.778del (p.Ser260fs)

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