ClinVar Miner

List of variants in gene CAPN3 reported as likely pathogenic by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 22
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HGVS dbSNP
NM_000070.3(CAPN3):c.1256A>G (p.Asp419Gly) rs886042895
NM_000070.3(CAPN3):c.1257T>G (p.Asp419Glu) rs139836397
NM_000070.3(CAPN3):c.1309C>T (p.Arg437Cys) rs777483913
NM_000070.3(CAPN3):c.1333G>C (p.Gly445Arg)
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp) rs557164942
NM_000070.3(CAPN3):c.1517T>C (p.Ile506Thr) rs1555422136
NM_000070.3(CAPN3):c.1524G>A (p.Glu508=) rs886043432
NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln) rs398123143
NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys) rs372438001
NM_000070.3(CAPN3):c.1745+5G>C rs886042903
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu) rs199806879
NM_000070.3(CAPN3):c.1914_1914+18del rs1555422851
NM_000070.3(CAPN3):c.2105C>T (p.Ala702Val) rs886042557
NM_000070.3(CAPN3):c.2134C>T (p.Leu712Phe) rs794727318
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp) rs770894443
NM_000070.3(CAPN3):c.2255_2257ACG[1] (p.Asp753del) rs886043333
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp) rs868791726
NM_000070.3(CAPN3):c.2440-3C>G rs761757153
NM_000070.3(CAPN3):c.500T>C (p.Phe167Ser) rs886042296
NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser) rs369784333
NM_000070.3(CAPN3):c.649G>A (p.Glu217Lys) rs773001194
NM_000070.3(CAPN3):c.956C>T (p.Pro319Leu) rs121434547

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