ClinVar Miner

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

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Gene type:
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Total variants: 13
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HGVS dbSNP
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu) rs749863676
NM_000070.3(CAPN3):c.1193+6T>C rs1555421532
NM_000070.3(CAPN3):c.1525-25A>C rs778435702
NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg) rs150226817
NM_000070.3(CAPN3):c.1800+21C>T rs201512120
NM_000070.3(CAPN3):c.2184+3G>A rs771917810
NM_000070.3(CAPN3):c.309+4A>C rs1566966120
NM_000070.3(CAPN3):c.371G>C (p.Gly124Ala) rs587780291
NM_000070.3(CAPN3):c.575C>T (p.Thr192Ile) rs1555420495
NM_000070.3(CAPN3):c.590G>T (p.Arg197Leu) rs768426565
NM_000070.3(CAPN3):c.652G>C (p.Ala218Pro) rs1555420621
NM_000070.3(CAPN3):c.668A>T (p.Asn223Ile) rs1160341980
NM_000070.3(CAPN3):c.938C>T (p.Pro313Leu) rs752483058

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