ClinVar Miner

List of variants in gene CAPN3 studied for not specified

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Gene type:
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Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_000070.3(CAPN3):c.*134C>T rs3098423 0.97772
NM_000070.3(CAPN3):c.1537-48T>C rs2241827 0.76381
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr) rs1801449 0.23274
NM_000070.3(CAPN3):c.1194-26C>G rs3743003 0.13055
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.1914+30G>A rs2289293 0.05262
NM_000070.3(CAPN3):c.2380+12del rs28364538 0.04623
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.2381-12A>G rs73402734 0.00578
NM_000070.3(CAPN3):c.318C>T (p.Cys106=) rs117609395 0.00495
NM_000070.3(CAPN3):c.1194-45C>T rs3743004 0.00414
NM_000070.3(CAPN3):c.1746-20C>G rs201892814 0.00320
NM_000070.3(CAPN3):c.930T>C (p.Asp310=) rs150356488 0.00259
NM_000070.3(CAPN3):c.1525-35del rs28364489 0.00243
NM_000070.3(CAPN3):c.2264-11C>T rs28364537 0.00195
NM_000070.3(CAPN3):c.1350C>T (p.Phe450=) rs144944366 0.00167
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.2235C>T (p.Tyr745=) rs147774793 0.00044
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.1813G>A (p.Val605Ile) rs200759807 0.00022
NM_000070.3(CAPN3):c.1668C>T (p.Ile556=) rs199884116 0.00018
NM_000070.3(CAPN3):c.1525-25A>C rs778435702 0.00016
NM_000070.3(CAPN3):c.1830C>T (p.Asn610=) rs202019404 0.00016
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr) rs747026964 0.00015
NM_000070.3(CAPN3):c.946-34G>A rs139297309 0.00014
NM_000070.3(CAPN3):c.1800+12G>A rs542523863 0.00013
NM_000070.3(CAPN3):c.2071G>A (p.Gly691Arg) rs140425651 0.00013
NM_000070.3(CAPN3):c.552G>A (p.Thr184=) rs147808529 0.00012
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.945+15G>A rs567256305 0.00010
NM_000070.3(CAPN3):c.1017G>A (p.Thr339=) rs141934227 0.00006
NM_000070.3(CAPN3):c.1585G>A (p.Ala529Thr) rs138857720 0.00006
NM_000070.3(CAPN3):c.499-13C>T rs201344810 0.00006
NM_000070.3(CAPN3):c.2079A>G (p.Thr693=) rs540561728 0.00005
NM_000070.3(CAPN3):c.945+14C>T rs763112832 0.00005
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu) rs749863676 0.00004
NM_000070.3(CAPN3):c.1308C>T (p.Gly436=) rs372968945 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.309+12C>T rs200773265 0.00004
NM_000070.3(CAPN3):c.-25G>C rs1405523432 0.00003
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.1302C>T (p.Asn434=) rs751429914 0.00002
NM_000070.3(CAPN3):c.2263+14A>G rs886038225 0.00002
NM_000070.3(CAPN3):c.566T>C (p.Leu189Pro) rs758795961 0.00002
NM_000070.3(CAPN3):c.2051-11C>T rs886038224 0.00001
NM_000070.3(CAPN3):c.2390A>G (p.His797Arg) rs766630908 0.00001
NM_000070.3(CAPN3):c.379+11G>A rs371195831 0.00001
NM_000070.3(CAPN3):c.755T>C (p.Met252Thr) rs1555420652 0.00001
NM_000070.3(CAPN3):c.801+19G>A rs767858015 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.1194-26CT[4] rs367976885
NM_000070.3(CAPN3):c.1336G>A (p.Gly446Ser) rs886042857
NM_000070.3(CAPN3):c.1525-16T>G rs1555422168
NM_000070.3(CAPN3):c.1834A>C (p.Asn612His)
NM_000070.3(CAPN3):c.1914+13G>C rs769337232
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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