ClinVar Miner

List of variants in gene CAPN5 reported as benign for not provided

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Gene type:
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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_004055.5(CAPN5):c.971+11A>G rs11604536 0.31042
NM_004055.5(CAPN5):c.1740+5G>C rs59430193 0.12599
NM_004055.5(CAPN5):c.30C>G (p.Asp10Glu) rs34801837 0.02474
NM_004055.5(CAPN5):c.167G>A (p.Gly56Asp) rs57014785 0.01838
NM_004055.5(CAPN5):c.1894C>A (p.Leu632Ile) rs111264315 0.00390
NM_004055.5(CAPN5):c.1653G>A (p.Ser551=) rs144226060 0.00368
NM_004055.5(CAPN5):c.399C>T (p.Asp133=) rs35359847 0.00285
NM_004055.5(CAPN5):c.804A>G (p.Leu268=) rs143460583 0.00260
NM_004055.5(CAPN5):c.1844G>A (p.Arg615Gln) rs143494790 0.00182
NM_004055.5(CAPN5):c.738C>T (p.Cys246=) rs34639786 0.00175
NM_004055.5(CAPN5):c.145G>A (p.Val49Ile) rs185836777 0.00132
NM_004055.5(CAPN5):c.894-3C>T rs199886178 0.00128
NM_004055.5(CAPN5):c.582T>C (p.Ser194=) rs140998191 0.00106
NM_004055.5(CAPN5):c.1827C>T (p.Thr609=) rs138592828 0.00101
NM_004055.5(CAPN5):c.1167+3G>T rs150295190 0.00096
NM_004055.5(CAPN5):c.618C>T (p.Asn206=) rs145714809 0.00078
NM_004055.5(CAPN5):c.21C>G (p.Pro7=) rs141606826 0.00074
NM_004055.5(CAPN5):c.297+12G>T rs149620556 0.00055
NM_004055.5(CAPN5):c.213C>T (p.His71=) rs149236442 0.00050
NM_004055.5(CAPN5):c.1291-12C>T rs148562841 0.00043
NM_004055.5(CAPN5):c.700-8C>T rs200667046 0.00037
NM_004055.5(CAPN5):c.1290+17C>A rs536742363 0.00018
NM_004055.5(CAPN5):c.336A>G (p.Glu112=) rs200994438 0.00016
NM_004055.5(CAPN5):c.1693A>C (p.Lys565Gln) rs186771698 0.00013
NM_004055.5(CAPN5):c.53G>A (p.Arg18Gln) rs200227062 0.00011
NM_004055.5(CAPN5):c.298-9C>G rs190963896 0.00010
NM_004055.5(CAPN5):c.298-15C>G rs372129605 0.00006
NM_004055.5(CAPN5):c.1290+20C>T rs374512102 0.00003
NM_004055.5(CAPN5):c.1740+20G>A rs782724385 0.00003
NM_004055.5(CAPN5):c.408C>T (p.Ile136=) rs369649104 0.00003
NM_004055.5(CAPN5):c.894-5C>G rs201223346 0.00003
NM_004055.5(CAPN5):c.1023C>T (p.Arg341=) rs781970902 0.00002
NM_004055.5(CAPN5):c.1426G>A (p.Glu476Lys) rs538890890 0.00001
NM_004055.5(CAPN5):c.166-4G>A rs572570736 0.00001
NM_004055.5(CAPN5):c.1291-11G>A rs781900344
NM_004055.5(CAPN5):c.165+2904C>T
NM_004055.5(CAPN5):c.414C>T (p.Asp138=)
NM_004055.5(CAPN5):c.675C>A (p.Gly225=) rs140555115
NM_004055.5(CAPN5):c.879G>A (p.Gly293=) rs148213292
NM_004055.5(CAPN5):c.90C>A (p.Pro30=) rs34236021
NM_004055.5(CAPN5):c.972-9del

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