List of variants in gene CACNB2 reported as uncertain significance by Biesecker Lab/Clinical Genomics Section, National Institutes of Health

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_201596.3(CACNB2):c.1696G>A (p.Ala566Thr)	rs202218948	0.00014
NM_201596.3(CACNB2):c.427G>A (p.Glu143Lys)	rs368719191	0.00004
NM_201596.3(CACNB2):c.104T>C (p.Leu35Pro)	rs373263114	0.00003
NM_201596.3(CACNB2):c.1892A>G (p.Lys631Arg)	rs200260399	0.00001
NM_201596.3(CACNB2):c.1093G>T (p.Ala365Ser)	rs371232673
NM_201596.3(CACNB2):c.1206+4_1206+7dup	rs1456201116
NM_201596.3(CACNB2):c.1558C>G (p.Pro520Ala)	rs200297403
NM_201596.3(CACNB2):c.1816C>T (p.Arg606Trp)	rs61733968
NM_201596.3(CACNB2):c.214-839_214-837del	rs786205265
NM_201596.3(CACNB2):c.359G>A (p.Arg120Gln)	rs202220375
NM_201596.3(CACNB2):c.824A>G (p.Tyr275Cys)	rs200826317

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