ClinVar Miner

List of variants reported as benign for cardiomyopathy by Genome Diagnostics Laboratory, University Medical Center Utrecht

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 91
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005921.2(MAP3K1):c.1284G>A (p.Thr428=) rs832575 0.83950
NM_016599.5(MYOZ2):c.247-18A>G rs11721566 0.58647
NM_000256.3(MYBPC3):c.3288G>A (p.Glu1096=) rs1052373 0.38767
NM_020433.5(JPH2):c.1728C>G (p.Pro576=) rs74352869 0.22485
NM_001005242.3(PKP2):c.1097T>C (p.Leu366Pro) rs1046116 0.20181
NM_001005242.3(PKP2):c.2357+13_2357+14insC rs149968852 0.19813
NM_024422.6(DSC2):c.2326A>G (p.Ile776Val) rs1893963 0.18480
NM_021167.5(GATAD1):c.160G>A (p.Gly54Ser) rs10281879 0.10561
NM_024422.6(DSC2):c.111A>G (p.Leu37=) rs12954874 0.10312
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly) rs3729989 0.09621
NM_000256.3(MYBPC3):c.786C>T (p.Thr262=) rs11570058 0.08958
NM_024422.6(DSC2):c.32A>G (p.Asn11Ser) rs868333 0.08191
NM_000432.4(MYL2):c.132T>C (p.Ile44=) rs2301610 0.08171
NM_000256.3(MYBPC3):c.472G>A (p.Val158Met) rs3729986 0.06899
NM_001005242.3(PKP2):c.2167+7C>T rs74072938 0.06473
NM_000256.3(MYBPC3):c.2308+18C>G rs3729948 0.04984
NM_032578.4(MYPN):c.1399G>A (p.Glu467Lys) rs74143030 0.04308
NM_000432.4(MYL2):c.4-14C>T rs12301951 0.04173
NM_000256.3(MYBPC3):c.537C>T (p.Ala179=) rs11570051 0.03962
NM_182914.3(SYNE2):c.7040C>A (p.Ala2347Glu) rs34625768 0.03914
NM_182914.3(SYNE2):c.7075A>G (p.Ser2359Gly) rs7157465 0.03914
NM_000256.3(MYBPC3):c.2737+12C>T rs3729936 0.03309
NM_182914.3(SYNE2):c.14734C>G (p.Pro4912Ala) rs17766354 0.03286
NM_182914.3(SYNE2):c.3559A>C (p.Ile1187Leu) rs57259697 0.03281
NM_182914.3(SYNE2):c.13423-7C>G rs7140414 0.03110
NM_000256.3(MYBPC3):c.2547C>T (p.Val849=) rs3729953 0.03083
NM_182914.3(SYNE2):c.9078A>T (p.Glu3026Asp) rs34843668 0.02941
NM_182914.3(SYNE2):c.7690A>G (p.Ile2564Val) rs11628107 0.02936
NM_145046.5(CALR3):c.820G>A (p.Val274Ile) rs12459238 0.02726
NM_182914.3(SYNE2):c.12840+8T>C rs145218296 0.02317
NM_182914.3(SYNE2):c.12626T>C (p.Ile4209Thr) rs61747118 0.02309
NM_182914.3(SYNE2):c.13254C>A (p.Asn4418Lys) rs36021513 0.02290
NM_000256.3(MYBPC3):c.492C>T (p.Gly164=) rs3218719 0.02170
NM_020433.5(JPH2):c.1289-7C>T rs116986535 0.02105
NM_182914.3(SYNE2):c.17556+4T>C rs2297301 0.01974
NM_001005242.3(PKP2):c.209G>T (p.Ser70Ile) rs75909145 0.01900
NM_001105206.3(LAMA4):c.4173T>C (p.Tyr1391=) rs35042032 0.01889
NM_032578.4(MYPN):c.2410G>A (p.Gly804Arg) rs62620248 0.01839
NM_001105206.3(LAMA4):c.4646A>G (p.Asn1549Ser) rs12110554 0.01544
NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=) rs11570097 0.01438
NM_001386795.1(DTNA):c.1903+8G>A rs111817603 0.01438
NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp) rs11570076 0.01409
NM_032578.4(MYPN):c.2925+9G>C rs12241644 0.01362
NM_182914.3(SYNE2):c.15794T>C (p.Val5265Ala) rs142660236 0.01196
NM_001105206.3(LAMA4):c.4065C>T (p.Phe1355=) rs34753919 0.01154
NM_001105206.3(LAMA4):c.4287+15C>T rs116361180 0.01137
NM_032578.4(MYPN):c.2447C>T (p.Pro816Leu) rs111965755 0.01059
NM_001105206.3(LAMA4):c.3239G>A (p.Arg1080Gln) rs41289902 0.01045
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser) rs140740776 0.01003
NM_016599.5(MYOZ2):c.237A>G (p.Ala79=) rs17851524 0.00952
NM_001386795.1(DTNA):c.2162+14G>A rs76713874 0.00820
NM_032578.4(MYPN):c.1600+21G>C rs41278498 0.00739
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808 0.00716
NM_182914.3(SYNE2):c.17561T>C (p.Leu5854Pro) rs117070973 0.00528
NM_032578.4(MYPN):c.1134C>T (p.Ile378=) rs145701607 0.00504
NM_145046.5(CALR3):c.850G>A (p.Asp284Asn) rs10404156 0.00473
NM_001386795.1(DTNA):c.210G>A (p.Leu70=) rs117571555 0.00459
NM_001103.4(ACTN2):c.536+10C>T rs141219516 0.00429
NM_000256.3(MYBPC3):c.833G>A (p.Gly278Glu) rs147315081 0.00427
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776 0.00376
NM_182914.3(SYNE2):c.20011G>A (p.Ala6671Thr) rs34820571 0.00341
NM_182914.3(SYNE2):c.20158C>T (p.Arg6720Trp) rs35700578 0.00335
NM_001985.3(ETFB):c.58-212A>C rs143144671 0.00299
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112 0.00247
NM_001005242.3(PKP2):c.1171-11T>C rs183414126 0.00239
NM_001105206.3(LAMA4):c.5016T>A (p.Ile1672=) rs148517180 0.00210
NM_020433.5(JPH2):c.380-6C>T rs201197277 0.00201
NM_000258.3(MYL3):c.130-14G>T rs192329378 0.00198
NM_016599.5(MYOZ2):c.29A>C (p.Gln10Pro) rs76757102 0.00185
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=) rs200224422 0.00176
NM_032578.4(MYPN):c.1246-19G>A rs75739924 0.00157
NM_021167.5(GATAD1):c.762G>A (p.Gly254=) rs139637606 0.00151
NM_001386795.1(DTNA):c.604-14G>T rs397517447 0.00123
NM_020433.5(JPH2):c.1971G>A (p.Glu657=) rs142333841 0.00099
NM_032578.4(MYPN):c.1460-14T>A rs201156035 0.00096
NM_000256.3(MYBPC3):c.926+8C>T rs377595584 0.00042
NM_182914.3(SYNE2):c.16178C>T (p.Ala5393Val) rs147173048 0.00025
NM_001005242.3(PKP2):c.1539C>T (p.Asn513=) rs535581825 0.00001
NM_000256.3(MYBPC3):c.506-12del rs11570050
NM_000256.3(MYBPC3):c.558G>T (p.Pro186=) rs370962887
NM_000432.4(MYL2):c.353+20del rs3833910
NM_001005242.3(PKP2):c.1557-8dup rs200009796
NM_001005242.3(PKP2):c.2168-11dup rs746936605
NM_001005242.3(PKP2):c.2168-21_2168-20del rs200266270
NM_001386795.1(DTNA):c.1744-10G>T rs192561043
NM_020433.5(JPH2):c.624C>G (p.Ala208=) rs398124358
NM_024422.6(DSC2):c.2393G>A (p.Arg798Gln) rs61731921
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_024422.6(DSC2):c.70-11del rs572309510
NM_145046.5(CALR3):c.1067G>T (p.Arg356Leu) rs140290452
NM_182914.3(SYNE2):c.13707+10T>C rs61987277

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.