List of variants in gene CAPN5 studied for retinal disorder

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_004055.5(CAPN5):c.1894C>A (p.Leu632Ile)	rs111264315	0.00390
NM_004055.5(CAPN5):c.1444G>A (p.Glu482Lys)	rs782244741	0.00004
NM_004055.5(CAPN5):c.121_123del (p.Tyr41del)	rs782792970	0.00001
NM_004055.5(CAPN5):c.1589_1592delinsGGTGAG (p.Lys530_Asp531delinsArgTer)
NM_004055.5(CAPN5):c.728G>A (p.Arg243His)
NM_004055.5(CAPN5):c.728G>T (p.Arg243Leu)	rs397514601
NM_004055.5(CAPN5):c.731T>C (p.Leu244Pro)	rs397514602
NM_004055.5(CAPN5):c.750G>C (p.Lys250Asn)	rs1950456995
NM_004055.5(CAPN5):c.865C>T (p.Arg289Trp)	rs886041303

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