ClinVar Miner

List of variants in gene CAPN3 reported by OMIM

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Total variants: 9
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HGVS dbSNP
NM_000070.2(CAPN3):c.1080G>C (p.Trp360Cys) rs267606703
NM_000070.2(CAPN3):c.1715G>A (p.Arg572Gln) rs121434544
NM_000070.2(CAPN3):c.1795dupA (p.Thr599Asnfs) rs80338803
NM_000070.2(CAPN3):c.2306G>A (p.Arg769Gln) rs80338802
NM_000070.2(CAPN3):c.2362_2363delAGinsTCATCT (p.Arg788Serfs) rs1555423217
NM_000070.2(CAPN3):c.257C>T (p.Ser86Phe) rs121434546
NM_000070.2(CAPN3):c.328C>T (p.Arg110Ter) rs121434545
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del) rs863224965
NM_000070.2(CAPN3):c.956C>T (p.Pro319Leu) rs121434547

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