List of variants in gene CAPN5 studied for perceptual disorders

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_004055.5(CAPN5):c.1282A>G (p.Ile428Val)	rs147530510	0.00029
NM_004055.5(CAPN5):c.949G>A (p.Val317Met)	rs782495056	0.00006
NM_004055.5(CAPN5):c.1444G>A (p.Glu482Lys)	rs782244741	0.00004
NM_004055.5(CAPN5):c.185G>A (p.Arg62His)	rs199504989	0.00004
NM_004055.5(CAPN5):c.971+6T>C	rs782006156	0.00002
NM_004055.5(CAPN5):c.121_123del (p.Tyr41del)	rs782792970	0.00001
NM_004055.5(CAPN5):c.1411A>C (p.Ile471Leu)	rs782580306	0.00001
NM_004055.5(CAPN5):c.1136A>G (p.Asn379Ser)
NM_004055.5(CAPN5):c.1280A>C (p.Asp427Ala)
NM_004055.5(CAPN5):c.1487G>A (p.Arg496Gln)
NM_004055.5(CAPN5):c.1617T>G (p.Tyr539Ter)
NM_004055.5(CAPN5):c.1649G>T (p.Arg550Leu)
NM_004055.5(CAPN5):c.728G>A (p.Arg243His)
NM_004055.5(CAPN5):c.773A>G (p.Asp258Gly)
NM_004055.5(CAPN5):c.842G>A (p.Arg281His)	rs369224922
NM_004055.5(CAPN5):c.91del (p.Leu31fs)	rs781925553

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