List of variants in gene CASQ2 reported as likely benign 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: 16

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HGVS	dbSNP	gnomAD frequency
NM_001232.4(CASQ2):c.730C>T (p.His244Tyr)	rs142036299	0.00076
NM_001232.4(CASQ2):c.861C>A (p.Ile287=)	rs143718767	0.00028
NM_001232.4(CASQ2):c.607-15T>C	rs138298959	0.00021
NM_001232.4(CASQ2):c.177G>A (p.Pro59=)	rs371260149	0.00016
NM_001232.4(CASQ2):c.533-6C>T	rs545407254	0.00013
NM_001232.4(CASQ2):c.540G>A (p.Lys180=)	rs72554057	0.00011
NM_001232.4(CASQ2):c.80C>T (p.Thr27Ile)	rs773237428	0.00009
NM_001232.4(CASQ2):c.270C>A (p.Gly90=)	rs72554056	0.00006
NM_001232.4(CASQ2):c.1026C>T (p.Val342=)	rs774882087	0.00001
NM_001232.4(CASQ2):c.333A>G (p.Glu111=)	rs727502910	0.00001
NM_001232.4(CASQ2):c.1132GAT[5] (p.Asp383del)	rs72554069
NM_001232.4(CASQ2):c.1134T>A (p.Asp378Glu)	rs150486780
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del)	rs397516641
NM_001232.4(CASQ2):c.19T>C (p.Phe7Leu)	rs727502911
NM_001232.4(CASQ2):c.421-15C>G	rs199939582
NM_001232.4(CASQ2):c.421-15C>T	rs199939582

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