List of variants in gene CAPN3 reported by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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: 31

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HGVS	dbSNP	gnomAD frequency
NM_000070.3(CAPN3):c.1746-20C>G	rs201892814	0.00320
NM_000070.3(CAPN3):c.*534T>C	rs772498665	0.00016
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met)	rs200646556	0.00006
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln)	rs121434548	0.00006
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln)	rs587780290	0.00002
NM_000070.3(CAPN3):c.1194-9A>G	rs374665929	0.00001
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys)	rs776043976	0.00001
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His)	rs863224956	0.00001
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys)	rs794726871	0.00001
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp)	rs142004418	0.00001
NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln)	rs398123143	0.00001
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys)	rs764370512	0.00001
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His)	rs778768583	0.00001
NM_000070.3(CAPN3):c.946-29del	rs1595826640	0.00001
NM_000070.3(CAPN3):c.1030-1G>A	rs1555421263
NM_000070.3(CAPN3):c.1043del (p.Gly348fs)	rs781013226
NM_000070.3(CAPN3):c.1106G>A (p.Trp369Ter)	rs1595828703
NM_000070.3(CAPN3):c.1193+6T>A	rs1555421532
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg)	rs773827877
NM_000070.3(CAPN3):c.1333G>T (p.Gly445Ter)
NM_000070.3(CAPN3):c.1354+129T>A
NM_000070.3(CAPN3):c.146G>A (p.Arg49His)	rs863224958
NM_000070.3(CAPN3):c.1897C>T (p.Gln633Ter)	rs1595844413
NM_000070.3(CAPN3):c.2212C>T (p.Gln738Ter)	rs1595847257
NM_000070.3(CAPN3):c.2380+2T>G	rs761935462
NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter)	rs121434545
NM_000070.3(CAPN3):c.509A>G (p.Tyr170Cys)	rs1555420468
NM_000070.3(CAPN3):c.533T>C (p.Ile178Thr)	rs794727615
NM_000070.3(CAPN3):c.550del (p.Thr184fs)	rs80338800
NM_000070.3(CAPN3):c.679G>A (p.Ala227Thr)	rs1595822648
NM_000070.3(CAPN3):c.701G>A (p.Gly234Glu)	rs1555420634

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