ClinVar Miner

List of variants in gene CAPN3 reported as uncertain significance for not specified

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Gene type:
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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn) rs146923842 0.00073
NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg) rs150226817 0.00034
NM_000070.3(CAPN3):c.1813G>A (p.Val605Ile) rs200759807 0.00022
NM_000070.3(CAPN3):c.1525-25A>C rs778435702 0.00016
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr) rs747026964 0.00015
NM_000070.3(CAPN3):c.1984G>T (p.Ala662Ser) rs187054121 0.00011
NM_000070.3(CAPN3):c.1524+3G>A rs374188055 0.00010
NM_000070.3(CAPN3):c.1585G>A (p.Ala529Thr) rs138857720 0.00006
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu) rs749863676 0.00004
NM_000070.3(CAPN3):c.1557C>T (p.His519=) rs368385372 0.00004
NM_000070.3(CAPN3):c.1678A>G (p.Thr560Ala) rs146845466 0.00004
NM_000070.3(CAPN3):c.2093G>A (p.Arg698His) rs190793093 0.00004
NM_000070.3(CAPN3):c.2417T>G (p.Ile806Ser) rs753854306 0.00003
NM_000070.3(CAPN3):c.938C>T (p.Pro313Leu) rs752483058 0.00003
NM_000070.3(CAPN3):c.566T>C (p.Leu189Pro) rs758795961 0.00002
NM_000070.3(CAPN3):c.2390A>G (p.His797Arg) rs766630908 0.00001
NM_000070.3(CAPN3):c.755T>C (p.Met252Thr) rs1555420652 0.00001
NM_000070.3(CAPN3):c.964T>C (p.Tyr322His) rs149591108 0.00001
NM_000070.3(CAPN3):c.998G>A (p.Gly333Asp) rs200580015 0.00001
NC_000015.9:g.(?_42651697)_(42704516_?)dup
NM_000070.3(CAPN3):c.1191C>G (p.Phe397Leu)
NM_000070.3(CAPN3):c.1193+6T>C rs1555421532
NM_000070.3(CAPN3):c.1336G>A (p.Gly446Ser) rs886042857
NM_000070.3(CAPN3):c.1834A>C (p.Asn612His)
NM_000070.3(CAPN3):c.2115+4T>G rs752436906
NM_000070.3(CAPN3):c.2116-19C>G rs2141223489
NM_000070.3(CAPN3):c.2184+21G>A
NM_000070.3(CAPN3):c.2416_2417dup (p.Ile807fs) rs1131691320
NM_000070.3(CAPN3):c.2443C>G (p.Leu815Val)
NM_000070.3(CAPN3):c.535G>A (p.Asp179Asn)
NM_000070.3(CAPN3):c.575C>G (p.Thr192Ser)
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.638A>G (p.His213Arg) rs768447053
NM_000070.3(CAPN3):c.652G>C (p.Ala218Pro) rs1555420621
NM_000070.3(CAPN3):c.668A>T (p.Asn223Ile) rs1160341980

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