List of variants in gene BUB1B reported as likely pathogenic for Mosaic variegated aneuploidy syndrome 1

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001211.6(BUB1B):c.2386-11A>G	rs751421137	0.00003
NM_001211.6(BUB1B):c.2285-2A>G	rs147160147	0.00001
NM_001211.6(BUB1B):c.2441G>A (p.Arg814His)	rs28989182	0.00001
NM_001211.6(BUB1B):c.580C>T (p.Arg194Ter)	rs28989186	0.00001
NM_001211.6(BUB1B):c.581+1G>T	rs2037228249	0.00001
NM_001211.6(BUB1B):c.1372del (p.Thr458fs)	rs2542554942
NM_001211.6(BUB1B):c.1401G>T (p.Gln467His)	rs2542555071
NM_001211.6(BUB1B):c.2386-2A>G	rs2037726277
NM_001211.6(BUB1B):c.36-1G>A	rs2542508482
NM_001211.6(BUB1B):c.595C>T (p.Arg199Ter)	rs1403423766
NM_001211.6(BUB1B):c.751+1G>T
NM_001211.6(BUB1B):c.967-2A>T	rs2037350060

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