ClinVar Miner

List of variants in gene CAPN3 reported as pathogenic by Athena Diagnostics Inc

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Gene type:
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Total variants: 31
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HGVS dbSNP
NM_000070.2(CAPN3):c.1319G>A rs376107921
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del) rs863224965
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp) rs749099493
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000070.3(CAPN3):c.1194-9A>G rs374665929
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr) rs774048743
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His) rs863224956
NM_000070.3(CAPN3):c.1465C>T (p.Arg489Trp) rs863224957
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln) rs147764579
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp) rs557164942
NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp) rs863224959
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln) rs121434544
NM_000070.3(CAPN3):c.1795dup (p.Thr599fs) rs80338803
NM_000070.3(CAPN3):c.1939G>T (p.Glu647Ter) rs863224960
NM_000070.3(CAPN3):c.1981del (p.Gln660_Ile661insTer) rs762471207
NM_000070.3(CAPN3):c.1992+1G>T rs863224961
NM_000070.3(CAPN3):c.2185-2A>G rs886041335
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290
NM_000070.3(CAPN3):c.2306G>A (p.Arg769Gln) rs80338802
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) rs778768583
NM_000070.3(CAPN3):c.2362_2363delinsTCATCT (p.Arg788fs) rs1555423217
NM_000070.3(CAPN3):c.2381-2A>G rs863224962
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu) rs149095128
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu) rs886042478
NM_000070.3(CAPN3):c.322_334dup (p.Ile112fs) rs1555420075
NM_000070.3(CAPN3):c.483del (p.Ile162fs) rs863224963
NM_000070.3(CAPN3):c.499-1G>A rs863224964
NM_000070.3(CAPN3):c.566T>C (p.Leu189Pro) rs758795961
NM_000070.3(CAPN3):c.598_612del (p.Phe200_Leu204del) rs727503837
NM_000070.3(CAPN3):c.883_886delinsCTT (p.Asp295fs) rs863224966

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