ClinVar Miner

List of variants in gene CAPN3 reported by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 212
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HGVS dbSNP gnomAD frequency
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr) rs1801449 0.23274
NM_000070.3(CAPN3):c.96T>C (p.Thr32=) rs1801496 0.09551
NM_000070.3(CAPN3):c.606T>C (p.Ser202=) rs17593 0.05293
NM_000070.3(CAPN3):c.1746-64C>T rs17764849 0.03691
NM_000070.3(CAPN3):c.1029+3A>G rs28364442 0.03285
NM_000070.3(CAPN3):c.78G>A (p.Pro26=) rs62642519 0.01774
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu) rs28364364 0.01193
NM_000070.3(CAPN3):c.2433T>C (p.Val811=) rs28364543 0.01154
NM_000070.3(CAPN3):c.1116-5A>G rs28364467 0.01144
NM_000070.3(CAPN3):c.551C>T (p.Thr184Met) rs35889956 0.01026
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625 0.00908
NM_000070.3(CAPN3):c.73C>T (p.His25Tyr) rs61735534 0.00885
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys) rs1801505 0.00719
NM_000070.3(CAPN3):c.939G>A (p.Pro313=) rs78369269 0.00698
NM_000070.3(CAPN3):c.984C>T (p.Cys328=) rs28364441 0.00600
NM_000070.3(CAPN3):c.318C>T (p.Cys106=) rs117609395 0.00495
NM_000070.3(CAPN3):c.1537-33G>A rs143412460 0.00363
NM_000070.3(CAPN3):c.1746-20C>G rs201892814 0.00320
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn) rs146923842 0.00073
NM_000070.3(CAPN3):c.525C>T (p.Asp175=) rs144383442 0.00064
NM_000070.3(CAPN3):c.2380+19C>T rs141234995 0.00053
NM_000070.3(CAPN3):c.1746-7C>G rs199978708 0.00051
NM_000070.3(CAPN3):c.1663G>A (p.Val555Ile) rs138172448 0.00048
NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=) rs147774793 0.00044
NM_000070.3(CAPN3):c.1643G>A (p.Arg548His) rs146309264 0.00039
NM_000070.3(CAPN3):c.2409A>G (p.Gly803=) rs143139259 0.00036
NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg) rs150226817 0.00034
NM_000070.3(CAPN3):c.246G>A (p.Pro82=) rs146529432 0.00034
NM_000070.3(CAPN3):c.232C>A (p.Pro78Thr) rs138867099 0.00031
NM_000070.3(CAPN3):c.1842G>C (p.Glu614Asp) rs201607149 0.00029
NM_000070.3(CAPN3):c.950T>C (p.Ile317Thr) rs371362494 0.00029
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr) rs148044781 0.00026
NM_000070.3(CAPN3):c.725G>A (p.Arg242Lys) rs146253209 0.00024
NM_000070.3(CAPN3):c.1813G>A (p.Val605Ile) rs200759807 0.00022
NM_000070.3(CAPN3):c.589C>T (p.Arg197Cys) rs199718635 0.00022
NM_000070.3(CAPN3):c.1668C>T (p.Ile556=) rs199884116 0.00018
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu) rs149095128 0.00018
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln) rs147764579 0.00016
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719 0.00015
NM_000070.3(CAPN3):c.721A>G (p.Ile241Val) rs141948992 0.00015
NM_000070.3(CAPN3):c.2306G>A (p.Arg769Gln) rs80338802 0.00014
NM_000070.3(CAPN3):c.1319G>A (p.Arg440Gln) rs376107921 0.00013
NM_000070.3(CAPN3):c.1774C>T (p.Arg592Trp) rs373512834 0.00013
NM_000070.3(CAPN3):c.2071G>A (p.Gly691Arg) rs140425651 0.00013
NM_000070.3(CAPN3):c.897C>A (p.Leu299=) rs370313391 0.00013
NM_000070.3(CAPN3):c.2106G>A (p.Ala702=) rs144260889 0.00012
NM_000070.3(CAPN3):c.1521C>T (p.Tyr507=) rs370231427 0.00011
NM_000070.3(CAPN3):c.1984G>T (p.Ala662Ser) rs187054121 0.00011
NM_000070.3(CAPN3):c.292G>A (p.Val98Ile) rs368585092 0.00011
NM_000070.3(CAPN3):c.47A>C (p.Glu16Ala) rs775742866 0.00011
NM_000070.3(CAPN3):c.1787A>G (p.Lys596Arg) rs747461807 0.00009
NM_000070.3(CAPN3):c.2269C>T (p.His757Tyr) rs148246325 0.00009
NM_000070.3(CAPN3):c.868A>T (p.Met290Leu) rs747399155 0.00009
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys) rs149914792 0.00008
NM_000070.3(CAPN3):c.2329A>G (p.Ile777Val) rs149969786 0.00008
NM_000070.3(CAPN3):c.10G>A (p.Val4Ile) rs140660066 0.00007
NM_000070.3(CAPN3):c.2429A>G (p.Asn810Ser) rs200485658 0.00007
NM_000070.3(CAPN3):c.41C>T (p.Ala14Val) rs771263688 0.00007
NM_000070.3(CAPN3):c.1017G>A (p.Thr339=) rs141934227 0.00006
NM_000070.3(CAPN3):c.1099G>A (p.Gly367Ser) rs767106920 0.00006
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met) rs200646556 0.00006
NM_000070.3(CAPN3):c.1404C>T (p.Asp468=) rs534326487 0.00006
NM_000070.3(CAPN3):c.157A>G (p.Ile53Val) rs144138775 0.00006
NM_000070.3(CAPN3):c.1812C>T (p.Phe604=) rs144383704 0.00006
NM_000070.3(CAPN3):c.2041G>A (p.Val681Met) rs553169803 0.00006
NM_000070.3(CAPN3):c.2109C>T (p.Leu703=) rs371577901 0.00006
NM_000070.3(CAPN3):c.2137A>G (p.Asn713Asp) rs748363488 0.00006
NM_000070.3(CAPN3):c.286C>G (p.Gln96Glu) rs1476836379 0.00006
NM_000070.3(CAPN3):c.308C>T (p.Pro103Leu) rs148538711 0.00006
NM_000070.3(CAPN3):c.329G>A (p.Arg110Gln) rs188108732 0.00006
NM_000070.3(CAPN3):c.499-1G>A rs863224964 0.00006
NM_000070.3(CAPN3):c.593A>G (p.Asn198Ser) rs371166254 0.00006
NM_000070.3(CAPN3):c.913G>A (p.Asp305Asn) rs753780627 0.00006
NM_000070.3(CAPN3):c.1437C>T (p.Ser479=) rs147914333 0.00005
NM_000070.3(CAPN3):c.184G>A (p.Glu62Lys) rs370422576 0.00005
NM_000070.3(CAPN3):c.2050C>T (p.His684Tyr) rs201566716 0.00005
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly) rs200379491 0.00005
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.1292T>C (p.Val431Ala) rs199625801 0.00004
NM_000070.3(CAPN3):c.1553A>G (p.Gln518Arg) rs764593698 0.00004
NM_000070.3(CAPN3):c.1557C>T (p.His519=) rs368385372 0.00004
NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp) rs863224959 0.00004
NM_000070.3(CAPN3):c.1964G>A (p.Arg655Gln) rs1049698745 0.00004
NM_000070.3(CAPN3):c.2040C>T (p.Val680=) rs200583904 0.00004
NM_000070.3(CAPN3):c.2081T>G (p.Leu694Arg) rs1355979542 0.00004
NM_000070.3(CAPN3):c.2093G>A (p.Arg698His) rs190793093 0.00004
NM_000070.3(CAPN3):c.2184+3G>A rs771917810 0.00004
NM_000070.3(CAPN3):c.2359G>A (p.Val787Ile) rs755736723 0.00004
NM_000070.3(CAPN3):c.349A>C (p.Asn117His) rs1011699008 0.00004
NM_000070.3(CAPN3):c.821A>G (p.Tyr274Cys) rs138914944 0.00004
NM_000070.3(CAPN3):c.1077G>A (p.Pro359=) rs759384108 0.00003
NM_000070.3(CAPN3):c.143G>A (p.Ser48Asn) rs767281996 0.00003
NM_000070.3(CAPN3):c.1800+5G>A rs373194123 0.00003
NM_000070.3(CAPN3):c.1993-1G>A rs369552114 0.00003
NM_000070.3(CAPN3):c.19G>A (p.Ala7Thr) rs776827432 0.00003
NM_000070.3(CAPN3):c.2236G>A (p.Glu746Lys) rs752155690 0.00003
NM_000070.3(CAPN3):c.52C>T (p.Arg18Trp) rs764247865 0.00003
NM_000070.3(CAPN3):c.802-9G>A rs761211705 0.00003
NM_000070.3(CAPN3):c.938C>T (p.Pro313Leu) rs752483058 0.00003
NM_000070.3(CAPN3):c.1006T>G (p.Tyr336Asp) rs745967703 0.00002
NM_000070.3(CAPN3):c.1157G>A (p.Arg386His) rs376273996 0.00002
NM_000070.3(CAPN3):c.1422G>A (p.Ser474=) rs367855757 0.00002
NM_000070.3(CAPN3):c.1514C>T (p.Ala505Val) rs756657325 0.00002
NM_000070.3(CAPN3):c.2058C>G (p.Asp686Glu) rs749614603 0.00002
NM_000070.3(CAPN3):c.2218G>A (p.Gly740Ser) rs398123145 0.00002
NM_000070.3(CAPN3):c.2242C>T (p.Arg748Ter) rs768090444 0.00002
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290 0.00002
NM_000070.3(CAPN3):c.2314_2316dup (p.Asp772dup) rs753836989 0.00002
NM_000070.3(CAPN3):c.2358C>T (p.Phe786=) rs576710955 0.00002
NM_000070.3(CAPN3):c.944G>A (p.Arg315Gln) rs201155077 0.00002
NM_000070.3(CAPN3):c.1016C>T (p.Thr339Met) rs747193982 0.00001
NM_000070.3(CAPN3):c.1034C>G (p.Pro345Arg) rs746311413 0.00001
NM_000070.3(CAPN3):c.1034C>T (p.Pro345Leu) rs746311413 0.00001
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp) rs749099493 0.00001
NM_000070.3(CAPN3):c.1194-9A>G rs374665929 0.00001
NM_000070.3(CAPN3):c.1198T>A (p.Ser400Thr) rs367863862 0.00001
NM_000070.3(CAPN3):c.1244A>G (p.Asn415Ser) rs769367343 0.00001
NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp) rs777323132 0.00001
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys) rs776043976 0.00001
NM_000070.3(CAPN3):c.1405G>A (p.Asp469Asn) rs1272589475 0.00001
NM_000070.3(CAPN3):c.1450C>A (p.Leu484Met) rs144220513 0.00001
NM_000070.3(CAPN3):c.1478G>A (p.Arg493Gln) rs143583537 0.00001
NM_000070.3(CAPN3):c.1504A>G (p.Ile502Val) rs755433765 0.00001
NM_000070.3(CAPN3):c.1537-3C>G rs187600280 0.00001
NM_000070.3(CAPN3):c.1584C>T (p.Asn528=) rs530529988 0.00001
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418 0.00001
NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys) rs372438001 0.00001
NM_000070.3(CAPN3):c.1637G>A (p.Arg546His) rs762091599 0.00001
NM_000070.3(CAPN3):c.163G>A (p.Gly55Arg) rs753338235 0.00001
NM_000070.3(CAPN3):c.1650T>C (p.Pro550=) rs766405190 0.00001
NM_000070.3(CAPN3):c.1696G>A (p.Glu566Lys) rs747819910 0.00001
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln) rs121434544 0.00001
NM_000070.3(CAPN3):c.1800+6T>G rs866147687 0.00001
NM_000070.3(CAPN3):c.1914+10C>T rs886042479 0.00001
NM_000070.3(CAPN3):c.1951C>A (p.Gln651Lys) rs1314405681 0.00001
NM_000070.3(CAPN3):c.1981del (p.Gln660_Ile661insTer) rs762471207 0.00001
NM_000070.3(CAPN3):c.1992+3G>A rs761188919 0.00001
NM_000070.3(CAPN3):c.2107C>T (p.Leu703Phe) rs751443759 0.00001
NM_000070.3(CAPN3):c.2115+1G>A rs766917640 0.00001
NM_000070.3(CAPN3):c.2116-6C>G rs1287322728 0.00001
NM_000070.3(CAPN3):c.2259C>T (p.Asp753=) rs755010088 0.00001
NM_000070.3(CAPN3):c.2288A>G (p.Tyr763Cys) rs764459544 0.00001
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) rs778768583 0.00001
NM_000070.3(CAPN3):c.2390A>G (p.His797Arg) rs766630908 0.00001
NM_000070.3(CAPN3):c.2440-3C>G rs761757153 0.00001
NM_000070.3(CAPN3):c.259C>G (p.Leu87Val) rs558925493 0.00001
NM_000070.3(CAPN3):c.264T>G (p.Phe88Leu) rs760626912 0.00001
NM_000070.3(CAPN3):c.371G>C (p.Gly124Ala) rs587780291 0.00001
NM_000070.3(CAPN3):c.505C>T (p.Arg169Cys) rs1349313665 0.00001
NM_000070.3(CAPN3):c.53G>A (p.Arg18Gln) rs1375691407 0.00001
NM_000070.3(CAPN3):c.637C>T (p.His213Tyr) rs747017866 0.00001
NM_000070.3(CAPN3):c.649G>A (p.Glu217Lys) rs773001194 0.00001
NM_000070.3(CAPN3):c.769G>A (p.Glu257Lys) rs1368398872 0.00001
NM_000070.3(CAPN3):c.797T>C (p.Ile266Thr) rs761142449 0.00001
NM_000070.3(CAPN3):c.866G>A (p.Arg289Gln) rs775084606 0.00001
NM_000070.3(CAPN3):c.917C>T (p.Pro306Leu) rs1192202929 0.00001
NM_000070.3(CAPN3):c.947C>T (p.Thr316Ile) rs1489416145 0.00001
NM_000070.3(CAPN3):c.949A>G (p.Ile317Val) rs759881880 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
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del) rs863224965
NM_000070.3(CAPN3):c.1002C>T (p.His334=) rs374833797
NM_000070.3(CAPN3):c.1003G>A (p.Ala335Thr) rs779526097
NM_000070.3(CAPN3):c.1123G>C (p.Asp375His) rs2053707997
NM_000070.3(CAPN3):c.1130G>A (p.Ser377Asn) rs760121531
NM_000070.3(CAPN3):c.1227A>G (p.Thr409=) rs111806046
NM_000070.3(CAPN3):c.1251G>A (p.Thr417=) rs151090625
NM_000070.3(CAPN3):c.1293G>A (p.Val431=) rs1009544440
NM_000070.3(CAPN3):c.1327T>C (p.Ser443Pro) rs1595834751
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg) rs773827877
NM_000070.3(CAPN3):c.1355-10G>A rs1388234925
NM_000070.3(CAPN3):c.1516A>C (p.Ile506Leu) rs140828326
NM_000070.3(CAPN3):c.1584C>A (p.Asn528Lys) rs530529988
NM_000070.3(CAPN3):c.1663G>C (p.Val555Leu) rs138172448
NM_000070.3(CAPN3):c.1699G>T (p.Gly567Trp) rs727503839
NM_000070.3(CAPN3):c.1768G>T (p.Val590Leu) rs370809015
NM_000070.3(CAPN3):c.1795dup (p.Thr599fs) rs80338803
NM_000070.3(CAPN3):c.1800+4G>A rs2054007004
NM_000070.3(CAPN3):c.1896G>A (p.Lys632=) rs746786954
NM_000070.3(CAPN3):c.193C>G (p.His65Asp) rs898013388
NM_000070.3(CAPN3):c.196A>C (p.Lys66Gln) rs2052597232
NM_000070.3(CAPN3):c.1992+1G>T rs863224961
NM_000070.3(CAPN3):c.2036_2037del (p.Thr679fs) rs886042418
NM_000070.3(CAPN3):c.2071G>C (p.Gly691Arg) rs140425651
NM_000070.3(CAPN3):c.2102T>C (p.Ile701Thr) rs1008776680
NM_000070.3(CAPN3):c.2148G>A (p.Glu716=) rs770894443
NM_000070.3(CAPN3):c.222T>G (p.Leu74=) rs551850600
NM_000070.3(CAPN3):c.223dup (p.Tyr75fs) rs398123146
NM_000070.3(CAPN3):c.2314_2317del (p.Asp772fs) rs764086484
NM_000070.3(CAPN3):c.2363G>A (p.Arg788Lys) rs769208910
NM_000070.3(CAPN3):c.281C>T (p.Pro94Leu) rs2052600414
NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter) rs121434545
NM_000070.3(CAPN3):c.46G>A (p.Glu16Lys) rs772580081
NM_000070.3(CAPN3):c.526G>A (p.Val176Met) rs774114705
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000070.3(CAPN3):c.584A>C (p.Asn195Thr) rs148855999
NM_000070.3(CAPN3):c.584A>G (p.Asn195Ser) rs148855999
NM_000070.3(CAPN3):c.590G>T (p.Arg197Leu) rs768426565
NM_000070.3(CAPN3):c.598_612del (p.Phe200_Leu204del) rs727503837
NM_000070.3(CAPN3):c.60del (p.Pro22fs) rs1566965857
NM_000070.3(CAPN3):c.632+8A>G rs2053447422
NM_000070.3(CAPN3):c.638A>G (p.His213Arg) rs768447053
NM_000070.3(CAPN3):c.673A>G (p.Thr225Ala) rs2053479373
NM_000070.3(CAPN3):c.756GAA[1] (p.Lys254del) rs794727697
NM_000070.3(CAPN3):c.77C>G (p.Pro26Arg) rs762020512
NM_000070.3(CAPN3):c.791G>A (p.Cys264Tyr) rs2053485296
NM_000070.3(CAPN3):c.802-3C>T rs1376586945
NM_000070.3(CAPN3):c.864A>G (p.Ala288=) rs1555420768
NM_000070.3(CAPN3):c.945+5G>A rs773547765
NM_000070.3(CAPN3):c.946-9_946-5del rs758101156
NM_000070.3(CAPN3):c.965A>G (p.Tyr322Cys) rs2053589191

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