List of variants in gene BUB1B reported as benign 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: 25

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HGVS	dbSNP	gnomAD frequency
NM_001211.6(BUB1B):c.1046G>A (p.Arg349Gln)	rs1801376	0.72576
NM_001211.6(BUB1B):c.2143+15C>T	rs11630664	0.46333
NM_001211.6(BUB1B):c.2679-97A>G	rs2290551	0.41699
NM_001211.6(BUB1B):c.1046= (p.Arg349=)	rs1801376	0.27424
NM_001211.6(BUB1B):c.1164G>A (p.Ala388=)	rs1047130	0.22814
NM_001211.6(BUB1B):c.282G>A (p.Lys94=)	rs1801389	0.13756
NM_001211.6(BUB1B):c.1853T>C (p.Val618Ala)	rs1801528	0.08536
NM_001211.6(BUB1B):c.1170G>C (p.Glu390Asp)	rs1017842	0.03695
NM_001211.6(BUB1B):c.2523C>T (p.Cys841=)	rs34999621	0.02415
NM_001211.6(BUB1B):c.1623T>C (p.Asn541=)	rs1129352	0.02405
NM_001211.6(BUB1B):c.119C>T (p.Thr40Met)	rs56079734	0.02335
NM_001211.6(BUB1B):c.348T>C (p.Tyr116=)	rs28989189	0.00587
NM_001211.6(BUB1B):c.751+15C>T	rs74499462	0.00241
NM_001211.6(BUB1B):c.1230C>T (p.Phe410=)	rs61733369	0.00094
NM_001211.6(BUB1B):c.180-3C>T	rs200483866	0.00059
NM_001211.6(BUB1B):c.1649G>A (p.Arg550Gln)	rs28989187	0.00049
NM_001211.6(BUB1B):c.573C>A (p.Ser191=)	rs138809057	0.00048
NM_001211.6(BUB1B):c.1920G>A (p.Pro640=)	rs755507111	0.00016
NM_001211.6(BUB1B):c.555A>G (p.Pro185=)	rs139794931	0.00006
NM_001211.6(BUB1B):c.1628+15dup	rs943601909
NM_001211.6(BUB1B):c.1628+23dup	rs748561005
NM_001211.6(BUB1B):c.2284+17T>G	rs13380241
NM_001211.6(BUB1B):c.240-13dup
NM_001211.6(BUB1B):c.36-13dup	rs150031754
NM_001211.6(BUB1B):c.385-2460_385-2453dup	rs979967281

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