ClinVar Miner

List of variants in gene MBD5 reported as likely pathogenic for brain disorder

Included ClinVar conditions (1834):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NC_000002.11:g.(?_149267619)_(149267714_?)dup
NM_001378120.1(MBD5):c.1119del (p.Val374fs) rs1680695228
NM_001378120.1(MBD5):c.114-2A>T rs1574451881
NM_001378120.1(MBD5):c.1250T>G (p.Met417Arg)
NM_001378120.1(MBD5):c.1438C>T (p.Gln480Ter)
NM_001378120.1(MBD5):c.1756G>A (p.Ala586Thr)
NM_001378120.1(MBD5):c.1A>G (p.Met1Val)
NM_001378120.1(MBD5):c.2012_2013del (p.Arg671fs)
NM_001378120.1(MBD5):c.316_319dup (p.Ile107fs)
NM_001378120.1(MBD5):c.5020C>T (p.Arg1674Trp) rs1393532031
NM_001378120.1(MBD5):c.5037-2A>G
NM_001378120.1(MBD5):c.74G>A (p.Trp25Ter)
NM_001378120.1(MBD5):c.830C>G (p.Ser277Ter) rs1029755113
NM_001378120.1(MBD5):c.936dup (p.Pro313fs) rs2105627349

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