List of variants in gene MBD5 reported as likely pathogenic for not provided

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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: 16

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 2q23.1(chr2:148789732-148965615)x1
GRCh37/hg19 2q23.1(chr2:148815797-148997388)x3
NM_001378120.1(MBD5):c.1326dup (p.Val443fs)	rs1553518563
NM_001378120.1(MBD5):c.1628C>T (p.Thr543Ile)
NM_001378120.1(MBD5):c.1811del (p.Asn604fs)	rs1057518567
NM_001378120.1(MBD5):c.1936_1937del (p.Arg645_Asp646insTer)	rs1574461269
NM_001378120.1(MBD5):c.2437C>T (p.Gln813Ter)	rs1057524832
NM_001378120.1(MBD5):c.254_255del (p.Arg85fs)	rs1707172225
NM_001378120.1(MBD5):c.3766G>T (p.Glu1256Ter)	rs1064796473
NM_001378120.1(MBD5):c.397+5G>C
NM_001378120.1(MBD5):c.4698C>A (p.Tyr1566Ter)	rs1553520624
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.80G>A (p.Arg27His)	rs1706965994
NM_001378120.1(MBD5):c.973C>T (p.Arg325Ter)	rs1553518509

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