ClinVar Miner

List of variants in gene CAPN3 reported as uncertain significance by Illumina Clinical Services Laboratory,Illumina

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Gene type:
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Total variants: 34
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HGVS dbSNP
NM_000070.3(CAPN3):c.*170G>C rs886051149
NM_000070.3(CAPN3):c.*202A>G rs886051150
NM_000070.3(CAPN3):c.*211G>A rs112661890
NM_000070.3(CAPN3):c.*436del rs774244796
NM_000070.3(CAPN3):c.*443A>C rs886051152
NM_000070.3(CAPN3):c.*482_*485dup rs780202767
NM_000070.3(CAPN3):c.*534T>C rs772498665
NM_000070.3(CAPN3):c.-104G>C rs149698681
NM_000070.3(CAPN3):c.-131G>T rs113881834
NM_000070.3(CAPN3):c.-300C>G rs886051147
NM_000070.3(CAPN3):c.1045G>C (p.Glu349Gln) rs146403258
NM_000070.3(CAPN3):c.1256A>G (p.Asp419Gly) rs886042895
NM_000070.3(CAPN3):c.1301_1304del (p.Asn434fs) rs1566979465
NM_000070.3(CAPN3):c.1477C>G (p.Arg493Gly) rs557164942
NM_000070.3(CAPN3):c.1557C>T (p.His519=) rs368385372
NM_000070.3(CAPN3):c.1585G>A (p.Ala529Thr) rs138857720
NM_000070.3(CAPN3):c.1637G>A (p.Arg546His) rs762091599
NM_000070.3(CAPN3):c.1768G>A (p.Val590Met) rs370809015
NM_000070.3(CAPN3):c.1830C>T (p.Asn610=) rs202019404
NM_000070.3(CAPN3):c.1842G>C (p.Glu614Asp) rs201607149
NM_000070.3(CAPN3):c.2088C>T (p.Ser696=) rs867628179
NM_000070.3(CAPN3):c.2264-11C>T rs28364537
NM_000070.3(CAPN3):c.2269C>T (p.His757Tyr) rs148246325
NM_000070.3(CAPN3):c.2381-12A>G rs73402734
NM_000070.3(CAPN3):c.2409A>G (p.Gly803=) rs143139259
NM_000070.3(CAPN3):c.2433T>C (p.Val811=) rs28364543
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr) rs747026964
NM_000070.3(CAPN3):c.451C>G (p.His151Asp) rs886051148
NM_000070.3(CAPN3):c.525C>T (p.Asp175=) rs144383442
NM_000070.3(CAPN3):c.590G>A (p.Arg197His) rs768426565
NM_000070.3(CAPN3):c.618G>A (p.Glu206=) rs541597520
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu) rs28364364
NM_000070.3(CAPN3):c.938C>T (p.Pro313Leu) rs752483058
NM_000070.3(CAPN3):c.980C>G (p.Ala327Gly) rs754441267

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