List of variants in gene MBD5 reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001378120.1(MBD5):c.1326dup (p.Val443fs)	rs1553518563
NM_001378120.1(MBD5):c.397+5G>C
NM_001378120.1(MBD5):c.4809dup (p.Ser1604fs)	rs1681487356
NM_001378120.1(MBD5):c.4975A>T (p.Lys1659Ter)	rs1553521650
NM_001378120.1(MBD5):c.754del (p.Arg252fs)
NM_001378120.1(MBD5):c.973C>T (p.Arg325Ter)	rs1553518509

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