Variants in gene CASQ2 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status:		Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status:		Submission 2 (uncertain significance) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 14

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HGVS	dbSNP	gnomAD frequency
NM_001232.4(CASQ2):c.731A>G (p.His244Arg)	rs28730716	0.02511
NM_001232.4(CASQ2):c.421-14G>A	rs139281637	0.00159
NM_001232.4(CASQ2):c.481A>G (p.Ile161Val)	rs146333579	0.00076
NM_001232.4(CASQ2):c.730C>T (p.His244Tyr)	rs142036299	0.00076
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu)	rs146664754	0.00055
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.80C>T (p.Thr27Ile)	rs773237428	0.00009
NM_001232.4(CASQ2):c.1015-3C>T	rs375320117	0.00008
NM_001232.4(CASQ2):c.1132GAT[5] (p.Asp383del)	rs72554069
NM_001232.4(CASQ2):c.1132GAT[7] (p.Asp383dup)	rs72554069
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.421-15C>G	rs199939582

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