List of variants in gene CAPN3 reported as pathogenic by Natera, Inc.

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: 34

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HGVS	dbSNP	gnomAD frequency
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu)	rs149095128	0.00018
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln)	rs147764579	0.00016
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp)	rs141656719	0.00015
NM_000070.3(CAPN3):c.2306G>A (p.Arg769Gln)	rs80338802	0.00014
NM_000070.3(CAPN3):c.1319G>A (p.Arg440Gln)	rs376107921	0.00013
NM_000070.3(CAPN3):c.499-1G>A	rs863224964	0.00006
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly)	rs200379491	0.00005
NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp)	rs863224959	0.00004
NM_000070.3(CAPN3):c.1993-1G>A	rs369552114	0.00003
NM_000070.3(CAPN3):c.802-9G>A	rs761211705	0.00003
NM_000070.3(CAPN3):c.2242C>T (p.Arg748Ter)	rs768090444	0.00002
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln)	rs587780290	0.00002
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp)	rs749099493	0.00001
NM_000070.3(CAPN3):c.1194-9A>G	rs374665929	0.00001
NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp)	rs777323132	0.00001
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys)	rs776043976	0.00001
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp)	rs142004418	0.00001
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln)	rs121434544	0.00001
NM_000070.3(CAPN3):c.1981del (p.Gln660_Ile661insTer)	rs762471207	0.00001
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His)	rs778768583	0.00001
NM_000070.3(CAPN3):c.649G>A (p.Glu217Lys)	rs773001194	0.00001
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del)	rs863224965
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg)	rs773827877
NM_000070.3(CAPN3):c.1699G>T (p.Gly567Trp)	rs727503839
NM_000070.3(CAPN3):c.1795dup (p.Thr599fs)	rs80338803
NM_000070.3(CAPN3):c.1992+1G>T	rs863224961
NM_000070.3(CAPN3):c.2036_2037del (p.Thr679fs)	rs886042418
NM_000070.3(CAPN3):c.223dup (p.Tyr75fs)	rs398123146
NM_000070.3(CAPN3):c.2314_2317del (p.Asp772fs)	rs764086484
NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter)	rs121434545
NM_000070.3(CAPN3):c.550del (p.Thr184fs)	rs80338800
NM_000070.3(CAPN3):c.598_612del (p.Phe200_Leu204del)	rs727503837
NM_000070.3(CAPN3):c.60del (p.Pro22fs)	rs1566965857
NM_000070.3(CAPN3):c.756GAA[1] (p.Lys254del)	rs794727697

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