List of variants in gene CASQ2 reported as likely benign for not specified

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: 32

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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.928G>A (p.Asp310Asn)	rs141314684	0.00039
NM_001232.4(CASQ2):c.1131A>T (p.Glu377Asp)	rs148824162	0.00031
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.1015-3C>T	rs375320117	0.00008
NM_001232.4(CASQ2):c.270C>A (p.Gly90=)	rs72554056	0.00006
NM_001232.4(CASQ2):c.-22C>T	rs180956898	0.00003
NM_001232.4(CASQ2):c.627G>A (p.Leu209=)	rs1291884749	0.00003
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.492C>T (p.Tyr164=)	rs886038422	0.00001
NM_001232.4(CASQ2):c.678C>T (p.Ala226=)	rs1647618680	0.00001
NM_001232.4(CASQ2):c.702A>G (p.Glu234=)	rs756693726	0.00001
NM_001232.4(CASQ2):c.737+19G>C	rs761915819	0.00001
NM_001232.4(CASQ2):c.-30T>C	rs1057521312
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.1188TGA[2] (p.Asp398del)	rs72554070
NM_001232.4(CASQ2):c.1188TGA[4] (p.Asp398dup)	rs72554070
NM_001232.4(CASQ2):c.177G>T (p.Pro59=)	rs371260149
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
NM_001232.4(CASQ2):c.621A>G (p.Leu207=)	rs1057522481
NM_001232.4(CASQ2):c.738-11_738-5del	rs56889721
NM_001232.4(CASQ2):c.784-17T>G	rs2997741

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