ClinVar Miner

List of variants in gene CAPN3 reported as pathogenic by Counsyl

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Gene type:
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Total variants: 21
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HGVS dbSNP
NM_000070.3(CAPN3):c.1043del (p.Gly348fs) rs781013226
NM_000070.3(CAPN3):c.1079G>A (p.Trp360Ter) rs1555421280
NM_000070.3(CAPN3):c.1322del (p.Gly441fs) rs1555421871
NM_000070.3(CAPN3):c.1465C>T (p.Arg489Trp) rs863224957
NM_000070.3(CAPN3):c.1524+1G>T rs1275289254
NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln) rs398123143
NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp) rs863224959
NM_000070.3(CAPN3):c.1838del (p.Lys613fs) rs1555422832
NM_000070.3(CAPN3):c.1981del (p.Gln660_Ile661insTer) rs762471207
NM_000070.3(CAPN3):c.1992+1G>T rs863224961
NM_000070.3(CAPN3):c.2034_2035CA[1] (p.Thr679fs) rs886042418
NM_000070.3(CAPN3):c.2050+1G>A rs768374736
NM_000070.3(CAPN3):c.2051-1G>T rs886042108
NM_000070.3(CAPN3):c.2065_2066AC[2] (p.His690fs) rs1555423046
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly) rs200379491
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.2314_2317del (p.Asp772fs) rs764086484
NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter) rs121434545
NM_000070.3(CAPN3):c.499-1G>A rs863224964
NM_000070.3(CAPN3):c.801+1G>A rs1459288402

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