ClinVar Miner

List of variants studied for dilated cardiomyopathy by Genome Diagnostics Laboratory, University Medical Center Utrecht

Included ClinVar conditions (248):
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ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_021167.5(GATAD1):c.160G>A (p.Gly54Ser) rs10281879 0.10561
NM_032578.4(MYPN):c.1399G>A (p.Glu467Lys) rs74143030 0.04308
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_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_182914.3(SYNE2):c.9078A>T (p.Glu3026Asp) rs34843668 0.02941
NM_182914.3(SYNE2):c.7690A>G (p.Ile2564Val) rs11628107 0.02936
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_001032283.3(TMPO):c.565+1665A>G rs11838270 0.02179
NM_182914.3(SYNE2):c.17556+4T>C rs2297301 0.01974
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_182914.3(SYNE2):c.12122G>A (p.Arg4041His) rs17101661 0.01834
NM_001105206.3(LAMA4):c.4646A>G (p.Asn1549Ser) rs12110554 0.01544
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_032578.4(MYPN):c.1600+21G>C rs41278498 0.00739
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_001103.4(ACTN2):c.536+10C>T rs141219516 0.00429
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_182914.3(SYNE2):c.20410G>A (p.Asp6804Asn) rs150644129 0.00259
NM_001105206.3(LAMA4):c.5016T>A (p.Ile1672=) rs148517180 0.00210
NM_032578.4(MYPN):c.1246-19G>A rs75739924 0.00157
NM_032578.4(MYPN):c.1104C>T (p.Gly368=) rs144764983 0.00154
NM_021167.5(GATAD1):c.762G>A (p.Gly254=) rs139637606 0.00151
NM_001032283.3(TMPO):c.565+1696C>T rs141443652 0.00142
NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile) rs138313730 0.00123
NM_182914.3(SYNE2):c.19248C>G (p.Pro6416=) rs150363140 0.00116
NM_032578.4(MYPN):c.1460-14T>A rs201156035 0.00096
NM_182914.3(SYNE2):c.12572G>A (p.Gly4191Asp) rs145227848 0.00094
NM_032578.4(MYPN):c.1130G>A (p.Arg377Gln) rs147596628 0.00058
NM_032578.4(MYPN):c.1236C>A (p.Thr412=) rs151220474 0.00058
NM_032578.4(MYPN):c.3124C>T (p.Arg1042Cys) rs151282801 0.00034
NM_182914.3(SYNE2):c.16178C>T (p.Ala5393Val) rs147173048 0.00025
NM_001105206.3(LAMA4):c.4852C>T (p.Leu1618Phe) rs397516733 0.00020
NM_001032283.3(TMPO):c.280-8G>A rs943754313 0.00004
NM_032578.4(MYPN):c.3720C>T (p.Asp1240=) rs146280945 0.00004
NM_032578.4(MYPN):c.1593C>T (p.His531=) rs138354021 0.00002
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser) rs547818652 0.00001
NM_001105206.3(LAMA4):c.2305T>C (p.Phe769Leu) rs1554334959 0.00001
NM_182914.3(SYNE2):c.13707+10T>C rs61987277

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