List of variants in gene CACNB2 reported as uncertain significance by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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.1511C>T (p.Thr504Ile)	rs143326262	0.00181
NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr)	rs149253719	0.00078
NM_201596.3(CACNB2):c.590C>T (p.Ser197Phe)	rs150528041	0.00064
NM_201596.3(CACNB2):c.1776C>A (p.Asp592Glu)	rs144182966	0.00045
NM_201596.3(CACNB2):c.804+146G>T	rs199539261	0.00031
NM_201596.3(CACNB2):c.1357C>T (p.Leu453Phe)	rs145638628	0.00026
NM_201596.3(CACNB2):c.380C>T (p.Ala127Val)	rs200367454	0.00022
NM_201596.3(CACNB2):c.1180G>A (p.Val394Ile)	rs149793143	0.00006
NM_201596.3(CACNB2):c.1A>G (p.Met1Val)	rs746311834	0.00003
NM_201596.3(CACNB2):c.1873C>T (p.Arg625Cys)	rs1060499847	0.00001
NM_201596.3(CACNB2):c.1534del (p.Ser512fs)	rs767341738

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