ClinVar Miner

List of variants in gene CAPN3 reported as uncertain significance by Counsyl

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Gene type:
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Total variants: 59
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HGVS dbSNP
NM_000070.2(CAPN3):c.2440-6_2440-3delTTTC rs1555423426
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu) rs749863676
NM_000070.3(CAPN3):c.1070G>A (p.Arg357Gln) rs988027905
NM_000070.3(CAPN3):c.1099G>A (p.Gly367Ser) rs767106920
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000070.3(CAPN3):c.1156C>T (p.Arg386Cys) rs919442493
NM_000070.3(CAPN3):c.1202A>G (p.Tyr401Cys) rs371784007
NM_000070.3(CAPN3):c.1302C>T (p.Asn434=) rs751429914
NM_000070.3(CAPN3):c.1354G>C (p.Asp452His) rs727503838
NM_000070.3(CAPN3):c.1355-6G>T rs28364485
NM_000070.3(CAPN3):c.143G>A (p.Ser48Asn) rs767281996
NM_000070.3(CAPN3):c.1450C>A (p.Leu484Met) rs144220513
NM_000070.3(CAPN3):c.1477C>G (p.Arg493Gly) rs557164942
NM_000070.3(CAPN3):c.149A>G (p.Asn50Ser) rs1262587749
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr) rs148044781
NM_000070.3(CAPN3):c.1517T>C (p.Ile506Thr) rs1555422136
NM_000070.3(CAPN3):c.1537-40C>G rs1172112518
NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys) rs372438001
NM_000070.3(CAPN3):c.1746-20C>G rs201892814
NM_000070.3(CAPN3):c.1793_1795del (p.Lys598del) rs80338803
NM_000070.3(CAPN3):c.1818G>A (p.Ser606=) rs28364528
NM_000070.3(CAPN3):c.1833_1835CAA[1] (p.Asn612del) rs1555422829
NM_000070.3(CAPN3):c.1979A>G (p.Gln660Arg) rs1555422962
NM_000070.3(CAPN3):c.1988_1990del (p.Gly663del) rs770529441
NM_000070.3(CAPN3):c.2093G>A (p.Arg698His) rs190793093
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp) rs770894443
NM_000070.3(CAPN3):c.2206_2211dup (p.Thr736_Asp737dup) rs1555423156
NM_000070.3(CAPN3):c.2230A>G (p.Ser744Gly) rs750083132
NM_000070.3(CAPN3):c.2245A>C (p.Asn749His) rs201012232
NM_000070.3(CAPN3):c.224A>G (p.Tyr75Cys) rs1555417323
NM_000070.3(CAPN3):c.2255_2257ACG[1] (p.Asp753del) rs886043333
NM_000070.3(CAPN3):c.2297_2299del (p.Ile766del) rs1555423200
NM_000070.3(CAPN3):c.2314_2316dup (p.Asp772dup) rs753836989
NM_000070.3(CAPN3):c.2329A>G (p.Ile777Val) rs149969786
NM_000070.3(CAPN3):c.2330T>C (p.Ile777Thr) rs1457098622
NM_000070.3(CAPN3):c.235G>C (p.Glu79Gln) rs1555417328
NM_000070.3(CAPN3):c.2390A>G (p.His797Arg) rs766630908
NM_000070.3(CAPN3):c.2440-8_2440-7insA rs1555423427
NM_000070.3(CAPN3):c.259C>G (p.Leu87Val) rs558925493
NM_000070.3(CAPN3):c.309G>A (p.Pro103=) rs376146681
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr) rs747026964
NM_000070.3(CAPN3):c.398C>T (p.Ala133Val) rs774685118
NM_000070.3(CAPN3):c.440G>A (p.Arg147Gln) rs139671324
NM_000070.3(CAPN3):c.505C>T (p.Arg169Cys) rs1349313665
NM_000070.3(CAPN3):c.590G>A (p.Arg197His) rs768426565
NM_000070.3(CAPN3):c.593A>G (p.Asn198Ser) rs371166254
NM_000070.3(CAPN3):c.632+4A>G rs1555420507
NM_000070.3(CAPN3):c.633G>C (p.Lys211Asn) rs779701414
NM_000070.3(CAPN3):c.689A>G (p.Asp230Gly) rs1555420629
NM_000070.3(CAPN3):c.739G>A (p.Asp247Asn) rs1251403881
NM_000070.3(CAPN3):c.755T>C (p.Met252Thr) rs1555420652
NM_000070.3(CAPN3):c.75_83del (p.His25_Ala27del) rs1555417278
NM_000070.3(CAPN3):c.77C>T (p.Pro26Leu) rs762020512
NM_000070.3(CAPN3):c.835_837del (p.Ser279del) rs776185666
NM_000070.3(CAPN3):c.945+5G>A rs773547765
NM_000070.3(CAPN3):c.958G>T (p.Val320Phe) rs1555421055
NM_000070.3(CAPN3):c.964T>C (p.Tyr322His) rs149591108
NM_000070.3(CAPN3):c.985G>C (p.Gly329Arg) rs1085307995
NM_000070.3(CAPN3):c.998G>A (p.Gly333Asp) rs200580015

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