ClinVar Miner

List of variants in gene DYNC2H1 reported as likely benign for Jeune thoracic dystrophy

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Total variants: 59
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HGVS dbSNP
NM_001377.3(DYNC2H1):c.*265C>T rs78537620
NM_001377.3(DYNC2H1):c.-94G>T rs114993913
NM_001377.3(DYNC2H1):c.10043-7T>A rs376067770
NM_001377.3(DYNC2H1):c.1007C>T (p.Ala336Val) rs182506343
NM_001377.3(DYNC2H1):c.1021C>T (p.His341Tyr) rs17301182
NM_001377.3(DYNC2H1):c.10479C>G (p.Leu3493=) rs151056947
NM_001377.3(DYNC2H1):c.10550G>A (p.Arg3517His) rs188113889
NM_001377.3(DYNC2H1):c.10884A>T (p.Thr3628=) rs371844948
NM_001377.3(DYNC2H1):c.11184T>A (p.Ser3728=) rs863224375
NM_001377.3(DYNC2H1):c.11382+7_11382+16del rs769400590
NM_001377.3(DYNC2H1):c.12457-6C>T rs11225812
NM_001377.3(DYNC2H1):c.1248+8A>G rs202130799
NM_001377.3(DYNC2H1):c.1367G>A (p.Arg456Gln) rs17099969
NM_001377.3(DYNC2H1):c.1662-3T>C rs548328948
NM_001377.3(DYNC2H1):c.2005A>G (p.Lys669Glu) rs189533535
NM_001377.3(DYNC2H1):c.2145A>G (p.Gln715=) rs373969189
NM_001377.3(DYNC2H1):c.21C>T (p.Asp7=) rs17301028
NM_001377.3(DYNC2H1):c.2454G>A (p.Glu818=) rs77738279
NM_001377.3(DYNC2H1):c.2482A>G (p.Met828Val) rs200961157
NM_001377.3(DYNC2H1):c.2550G>A (p.Leu850=) rs375307767
NM_001377.3(DYNC2H1):c.2818+13T>C rs150786504
NM_001377.3(DYNC2H1):c.2860G>A (p.Glu954Lys) rs61898615
NM_001377.3(DYNC2H1):c.3181C>G (p.Leu1061Val) rs200466720
NM_001377.3(DYNC2H1):c.3372C>T (p.Ile1124=) rs774300457
NM_001377.3(DYNC2H1):c.33C>T (p.Leu11=) rs373977008
NM_001377.3(DYNC2H1):c.348C>T (p.Phe116=) rs776765795
NM_001377.3(DYNC2H1):c.3500A>G (p.His1167Arg) rs185613200
NM_001377.3(DYNC2H1):c.366+10G>A rs200257097
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840
NM_001377.3(DYNC2H1):c.4068C>T (p.Phe1356=) rs74713170
NM_001377.3(DYNC2H1):c.4192A>C (p.Arg1398=) rs371259464
NM_001377.3(DYNC2H1):c.4312T>C (p.Leu1438=) rs367841359
NM_001377.3(DYNC2H1):c.4941T>G (p.Ser1647=) rs981069530
NM_001377.3(DYNC2H1):c.5047C>T (p.Leu1683Phe) rs201563576
NM_001377.3(DYNC2H1):c.5088G>A (p.Thr1696=) rs201302396
NM_001377.3(DYNC2H1):c.5177G>A (p.Arg1726Gln) rs564701277
NM_001377.3(DYNC2H1):c.5334+6G>A rs372964069
NM_001377.3(DYNC2H1):c.5558+4A>G rs11225578
NM_001377.3(DYNC2H1):c.5695G>A (p.Val1899Ile) rs150887098
NM_001377.3(DYNC2H1):c.570T>C (p.Ile190=) rs1159253078
NM_001377.3(DYNC2H1):c.5798A>G (p.Glu1933Gly) rs201829296
NM_001377.3(DYNC2H1):c.6057A>G (p.Leu2019=) rs187190605
NM_001377.3(DYNC2H1):c.6139+7C>T rs200749262
NM_001377.3(DYNC2H1):c.6551A>T (p.Asp2184Val) rs201967064
NM_001377.3(DYNC2H1):c.6642T>C (p.His2214=) rs200306856
NM_001377.3(DYNC2H1):c.6726G>T (p.Val2242=) rs200600809
NM_001377.3(DYNC2H1):c.7122G>A (p.Leu2374=) rs116574613
NM_001377.3(DYNC2H1):c.7209G>A (p.Val2403=) rs371948128
NM_001377.3(DYNC2H1):c.7320G>A (p.Thr2440=) rs183927107
NM_001377.3(DYNC2H1):c.7540+14G>A rs115273161
NM_001377.3(DYNC2H1):c.7797T>G (p.Leu2599=) rs139319426
NM_001377.3(DYNC2H1):c.8481A>C (p.Thr2827=) rs370627443
NM_001377.3(DYNC2H1):c.8769G>A (p.Val2923=) rs375421077
NM_001377.3(DYNC2H1):c.8881G>A (p.Ala2961Thr) rs199568537
NM_001377.3(DYNC2H1):c.911A>T (p.Gln304Leu) rs12146610
NM_001377.3(DYNC2H1):c.9178A>C (p.Arg3060=) rs200515728
NM_001377.3(DYNC2H1):c.9505A>G (p.Ile3169Val) rs200170585
NM_001377.3(DYNC2H1):c.9814T>A (p.Leu3272Ile) rs200342335
NM_001377.3(DYNC2H1):c.9820-8T>A rs750689751

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