ClinVar Miner

List of variants in gene CAPN1 reported as likely benign for not provided

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Gene type:
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Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_005186.4(CAPN1):c.1781T>C (p.Val594Ala) rs148743672 0.00236
NM_005186.4(CAPN1):c.1152C>T (p.Cys384=) rs17881532 0.00229
NM_005186.4(CAPN1):c.1474G>A (p.Gly492Arg) rs17883283 0.00140
NM_005186.4(CAPN1):c.759C>T (p.Asp253=) rs185612692 0.00136
NM_005186.4(CAPN1):c.1597C>T (p.Pro533Ser) rs150244086 0.00099
NM_005186.4(CAPN1):c.1342-15G>C rs376150592 0.00029
NM_005186.4(CAPN1):c.519G>A (p.Gly173=) rs201854138 0.00025
NM_005186.4(CAPN1):c.1794+11G>A rs182727714 0.00022
NM_005186.4(CAPN1):c.517G>A (p.Gly173Arg) rs199993600 0.00022
NM_005186.4(CAPN1):c.1341+7A>T rs368589277 0.00021
NM_005186.4(CAPN1):c.1165+13G>A rs373303504 0.00016
NM_005186.4(CAPN1):c.531C>T (p.Phe177=) rs200853785 0.00008
NM_005186.4(CAPN1):c.337+10C>T rs748437197 0.00005
NM_005186.4(CAPN1):c.381C>T (p.Asn127=) rs374553729 0.00005
NM_005186.4(CAPN1):c.1332G>C (p.Ala444=) rs374582196 0.00004
NM_005186.4(CAPN1):c.2119-4G>A rs986720813 0.00003
NM_005186.4(CAPN1):c.723G>A (p.Ala241=) rs201509961 0.00003
NM_005186.4(CAPN1):c.606C>T (p.Tyr202=) rs756986750 0.00002
NM_005186.4(CAPN1):c.1269T>C (p.Leu423=) rs370475728 0.00001
NM_005186.4(CAPN1):c.264C>A (p.Pro88=) rs371964953 0.00001
NM_005186.4(CAPN1):c.1004+19T>A
NM_005186.4(CAPN1):c.1004+9C>A
NM_005186.4(CAPN1):c.1005-12C>A
NM_005186.4(CAPN1):c.1037C>T (p.Thr346Ile)
NM_005186.4(CAPN1):c.1044G>A (p.Leu348=)
NM_005186.4(CAPN1):c.1065C>T (p.Pro355=)
NM_005186.4(CAPN1):c.1140C>T (p.Thr380=)
NM_005186.4(CAPN1):c.1165+12C>T
NM_005186.4(CAPN1):c.1165+15G>A
NM_005186.4(CAPN1):c.1221G>A (p.Pro407=)
NM_005186.4(CAPN1):c.1224C>T (p.Asp408=)
NM_005186.4(CAPN1):c.1260G>C (p.Val420=)
NM_005186.4(CAPN1):c.1263C>G (p.Leu421=)
NM_005186.4(CAPN1):c.1341+19C>T
NM_005186.4(CAPN1):c.1342-14TC[2]
NM_005186.4(CAPN1):c.1354-12C>T
NM_005186.4(CAPN1):c.1354-15C>T
NM_005186.4(CAPN1):c.1368G>A (p.Pro456=)
NM_005186.4(CAPN1):c.1440G>T (p.Leu480=)
NM_005186.4(CAPN1):c.1494C>T (p.Pro498=) rs1948963565
NM_005186.4(CAPN1):c.1512C>T (p.Asn504=)
NM_005186.4(CAPN1):c.1527C>T (p.Phe509=)
NM_005186.4(CAPN1):c.1565+9T>C
NM_005186.4(CAPN1):c.1566-10CT[2]
NM_005186.4(CAPN1):c.1566-8C>G
NM_005186.4(CAPN1):c.1599C>T (p.Pro533=)
NM_005186.4(CAPN1):c.1606-10C>T
NM_005186.4(CAPN1):c.1606-5T>C
NM_005186.4(CAPN1):c.1672-20C>T rs2137394812
NM_005186.4(CAPN1):c.1686C>T (p.Ser562=)
NM_005186.4(CAPN1):c.1729+13G>A
NM_005186.4(CAPN1):c.1731C>T (p.His577=)
NM_005186.4(CAPN1):c.174T>C (p.Asp58=) rs759639895
NM_005186.4(CAPN1):c.183C>T (p.Phe61=)
NM_005186.4(CAPN1):c.189G>A (p.Pro63=)
NM_005186.4(CAPN1):c.189G>C (p.Pro63=)
NM_005186.4(CAPN1):c.2130G>A (p.Leu710=)
NM_005186.4(CAPN1):c.21G>A (p.Thr7=)
NM_005186.4(CAPN1):c.24G>C (p.Pro8=)
NM_005186.4(CAPN1):c.267+20G>C
NM_005186.4(CAPN1):c.267+9G>C
NM_005186.4(CAPN1):c.268-12G>T
NM_005186.4(CAPN1):c.268-4G>A
NM_005186.4(CAPN1):c.337+15C>T
NM_005186.4(CAPN1):c.337+15dup
NM_005186.4(CAPN1):c.337+19G>A
NM_005186.4(CAPN1):c.369C>T (p.Ser123=) rs1414106013
NM_005186.4(CAPN1):c.450T>C (p.His150=)
NM_005186.4(CAPN1):c.457-13C>T
NM_005186.4(CAPN1):c.457-5C>G
NM_005186.4(CAPN1):c.457-6C>T
NM_005186.4(CAPN1):c.585T>C (p.Tyr195=)
NM_005186.4(CAPN1):c.591-17C>T
NM_005186.4(CAPN1):c.615G>A (p.Leu205=)
NM_005186.4(CAPN1):c.621G>T (p.Gly207=)
NM_005186.4(CAPN1):c.675C>T (p.Tyr225=)
NM_005186.4(CAPN1):c.759+12C>T
NM_005186.4(CAPN1):c.759+13G>A
NM_005186.4(CAPN1):c.759+19G>A
NM_005186.4(CAPN1):c.760-20G>C
NM_005186.4(CAPN1):c.802T>C (p.Leu268=)
NM_005186.4(CAPN1):c.822C>T (p.Tyr274=)
NM_005186.4(CAPN1):c.831C>T (p.Thr277=)
NM_005186.4(CAPN1):c.858C>A (p.Gly286=)
NM_005186.4(CAPN1):c.888C>T (p.Asn296=)
NM_005186.4(CAPN1):c.897C>T (p.Gly299=)
NM_005186.4(CAPN1):c.924C>T (p.Ser308=)
NM_005186.4(CAPN1):c.929+11G>T
NM_005186.4(CAPN1):c.978G>A (p.Arg326=)
NM_005186.4(CAPN1):c.983A>G (p.Lys328Arg)
NM_005186.4(CAPN1):c.993C>T (p.Asp331=)

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