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: 21
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HGVS dbSNP gnomAD frequency
NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg) rs150226817 0.00034
NM_000070.3(CAPN3):c.1525-25A>C rs778435702 0.00016
NM_000070.3(CAPN3):c.835T>C (p.Ser279Pro) rs755930521 0.00005
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu) rs749863676 0.00004
NM_000070.3(CAPN3):c.1553A>G (p.Gln518Arg) rs764593698 0.00004
NM_000070.3(CAPN3):c.2184+3G>A rs771917810 0.00004
NM_000070.3(CAPN3):c.938C>T (p.Pro313Leu) rs752483058 0.00003
NM_000070.3(CAPN3):c.648C>T (p.Tyr216=) rs138846390 0.00002
NM_000070.3(CAPN3):c.1092G>T (p.Glu364Asp) rs2053635682 0.00001
NM_000070.3(CAPN3):c.1257T>G (p.Asp419Glu) rs139836397 0.00001
NM_000070.3(CAPN3):c.371G>C (p.Gly124Ala) rs587780291 0.00001
NM_000070.3(CAPN3):c.964T>C (p.Tyr322His) rs149591108 0.00001
NM_000070.3(CAPN3):c.1193+6T>C rs1555421532
NM_000070.3(CAPN3):c.1516A>C (p.Ile506Leu) rs140828326
NM_000070.3(CAPN3):c.1664T>A (p.Val555Asp) rs2141203159
NM_000070.3(CAPN3):c.309+4A>C rs1566966120
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.600C>G (p.Phe200Leu)
NM_000070.3(CAPN3):c.652G>C (p.Ala218Pro) rs1555420621
NM_000070.3(CAPN3):c.668A>T (p.Asn223Ile) rs1160341980

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