List of variants in gene CASQ2 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu)	rs146664754	0.00055
NM_001232.4(CASQ2):c.533-6C>T	rs545407254	0.00013
NM_001232.4(CASQ2):c.774T>C (p.Phe258=)	rs181769947	0.00008
NM_001232.4(CASQ2):c.943G>A (p.Val315Ile)	rs771188512	0.00003
NM_001232.4(CASQ2):c.114C>T (p.Ser38=)	rs571353035	0.00002
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del)	rs397516641
NM_001232.4(CASQ2):c.744T>A (p.Thr248=)

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