ClinVar Miner

List of variants in gene DYNC2H1 reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 102
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HGVS dbSNP
NM_001080463.1(DYNC2H1):c.3574-9_3574-8delTT rs5794210
NM_001080463.2(DYNC2H1):c.10432A>G (p.Ile3478Val) rs794727831
NM_001080463.2(DYNC2H1):c.10783-4A>G rs751742333
NM_001080463.2(DYNC2H1):c.11747G>A (p.Gly3916Asp) rs201479015
NM_001080463.2(DYNC2H1):c.1212A>C (p.Lys404Asn) rs1555038706
NM_001080463.2(DYNC2H1):c.12177+1G>A rs794727944
NM_001080463.2(DYNC2H1):c.12478-8C>G rs756544728
NM_001080463.2(DYNC2H1):c.1249-6T>C rs753712960
NM_001080463.2(DYNC2H1):c.12787G>C (p.Asp4263His) rs772516163
NM_001080463.2(DYNC2H1):c.1662-3T>C rs548328948
NM_001080463.2(DYNC2H1):c.1935A>T (p.Ala645=) rs368061315
NM_001080463.2(DYNC2H1):c.2345+6A>G rs778977022
NM_001080463.2(DYNC2H1):c.2862A>G (p.Glu954=) rs886042159
NM_001080463.2(DYNC2H1):c.3758G>A (p.Arg1253Gln) rs367601056
NM_001080463.2(DYNC2H1):c.4386C>T (p.Asn1462=) rs372442744
NM_001080463.2(DYNC2H1):c.5304T>C (p.His1768=) rs727503906
NM_001080463.2(DYNC2H1):c.5846del (p.Glu1949fs) rs794727595
NM_001080463.2(DYNC2H1):c.6604A>G (p.Met2202Val) rs727503907
NM_001080463.2(DYNC2H1):c.7149G>A (p.Thr2383=) rs553516014
NM_001080463.2(DYNC2H1):c.7877A>G (p.Asp2626Gly) rs766544003
NM_001080463.2(DYNC2H1):c.8041A>G (p.Ile2681Val) rs201540484
NM_001080463.2(DYNC2H1):c.8947-1G>T rs727503908
NM_001080463.2(DYNC2H1):c.8960A>C (p.Glu2987Ala) rs371429514
NM_001080463.2(DYNC2H1):c.9034G>A (p.Val3012Ile) rs371982886
NM_001080463.2(DYNC2H1):c.9737C>T (p.Thr3246Ile) rs794727822
NM_001080463.2(DYNC2H1):c.999+7A>G rs766672853
NM_001377.3(DYNC2H1):c.10024C>T (p.Arg3342Ter)
NM_001377.3(DYNC2H1):c.10043-15G>T rs648387
NM_001377.3(DYNC2H1):c.10043-7T>A rs376067770
NM_001377.3(DYNC2H1):c.10199G>A (p.Arg3400Gln) rs775615484
NM_001377.3(DYNC2H1):c.10314A>G (p.Glu3438=) rs369838929
NM_001377.3(DYNC2H1):c.10650A>G (p.Ser3550=) rs185562630
NM_001377.3(DYNC2H1):c.10713C>T (p.Phe3571=) rs886043866
NM_001377.3(DYNC2H1):c.10834G>C (p.Asp3612His) rs116872934
NM_001377.3(DYNC2H1):c.11256+18C>T rs11225674
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val) rs137853026
NM_001377.3(DYNC2H1):c.1134+8A>G rs138290301
NM_001377.3(DYNC2H1):c.11649+12C>A rs79978663
NM_001377.3(DYNC2H1):c.11681C>G (p.Ser3894Ter) rs776315442
NM_001377.3(DYNC2H1):c.11905G>A (p.Val3969Ile) rs189100009
NM_001377.3(DYNC2H1):c.11925C>T (p.Cys3975=) rs794727942
NM_001377.3(DYNC2H1):c.12006C>T (p.Ile4002=) rs775505863
NM_001377.3(DYNC2H1):c.12082G>T (p.Gly4028Cys) rs202216852
NM_001377.3(DYNC2H1):c.1233A>G (p.Gln411=) rs116888435
NM_001377.3(DYNC2H1):c.12410C>G (p.Pro4137Arg) rs761765709
NM_001377.3(DYNC2H1):c.12581C>T (p.Ser4194Phe) rs886042136
NM_001377.3(DYNC2H1):c.12620G>C (p.Arg4207Pro)
NM_001377.3(DYNC2H1):c.12643A>C (p.Ile4215Leu) rs142920070
NM_001377.3(DYNC2H1):c.12909C>A (p.Phe4303Leu) rs191971137
NM_001377.3(DYNC2H1):c.1360+2del rs780539887
NM_001377.3(DYNC2H1):c.1484A>C (p.Lys495Thr) rs202233363
NM_001377.3(DYNC2H1):c.1550A>G (p.His517Arg) rs375299740
NM_001377.3(DYNC2H1):c.1748T>C (p.Leu583Pro) rs1234649311
NM_001377.3(DYNC2H1):c.1857+8A>G
NM_001377.3(DYNC2H1):c.1966G>A (p.Gly656Arg) rs369040584
NM_001377.3(DYNC2H1):c.2005A>G (p.Lys669Glu) rs189533535
NM_001377.3(DYNC2H1):c.2040dup (p.Ala681fs) rs1555042801
NM_001377.3(DYNC2H1):c.3012T>C (p.Gly1004=) rs202082545
NM_001377.3(DYNC2H1):c.3015A>G (p.Leu1005=) rs201310509
NM_001377.3(DYNC2H1):c.3097-4A>G rs368802969
NM_001377.3(DYNC2H1):c.3170G>A (p.Arg1057His) rs191381310
NM_001377.3(DYNC2H1):c.3181C>G (p.Leu1061Val) rs200466720
NM_001377.3(DYNC2H1):c.3353del (p.Ser1118fs) rs755338872
NM_001377.3(DYNC2H1):c.33C>T (p.Leu11=) rs373977008
NM_001377.3(DYNC2H1):c.3500A>G (p.His1167Arg) rs185613200
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840
NM_001377.3(DYNC2H1):c.3744+9C>T rs142483417
NM_001377.3(DYNC2H1):c.3794G>A (p.Arg1265His) rs200635842
NM_001377.3(DYNC2H1):c.4192A>C (p.Arg1398=) rs371259464
NM_001377.3(DYNC2H1):c.4238A>G (p.Lys1413Arg) rs688906
NM_001377.3(DYNC2H1):c.4916C>A (p.Thr1639Lys) rs200239560
NM_001377.3(DYNC2H1):c.5047C>T (p.Leu1683Phe) rs201563576
NM_001377.3(DYNC2H1):c.5334+6G>A rs372964069
NM_001377.3(DYNC2H1):c.5473A>G (p.Ile1825Val) rs201860217
NM_001377.3(DYNC2H1):c.5496G>A (p.Ser1832=) rs555082393
NM_001377.3(DYNC2H1):c.5559-8T>C rs794727588
NM_001377.3(DYNC2H1):c.5695G>A (p.Val1899Ile) rs150887098
NM_001377.3(DYNC2H1):c.5718C>A (p.Thr1906=) rs585692
NM_001377.3(DYNC2H1):c.5798A>G (p.Glu1933Gly) rs201829296
NM_001377.3(DYNC2H1):c.5821G>C (p.Ala1941Pro) rs368058473
NM_001377.3(DYNC2H1):c.6093T>G (p.Asp2031Glu) rs372641908
NM_001377.3(DYNC2H1):c.6478-6C>T rs114254215
NM_001377.3(DYNC2H1):c.652C>T (p.Leu218=) rs1565311009
NM_001377.3(DYNC2H1):c.6551A>T (p.Asp2184Val) rs201967064
NM_001377.3(DYNC2H1):c.6918A>G (p.Ser2306=) rs368824340
NM_001377.3(DYNC2H1):c.6951C>T (p.His2317=) rs586592
NM_001377.3(DYNC2H1):c.7128A>G (p.Ala2376=) rs371410128
NM_001377.3(DYNC2H1):c.7597C>T (p.Arg2533Cys) rs754889986
NM_001377.3(DYNC2H1):c.8145_8146delinsAT (p.Tyr2715_Gln2716delinsTer) rs1565390180
NM_001377.3(DYNC2H1):c.8428G>T (p.Gly2810Cys) rs794727750
NM_001377.3(DYNC2H1):c.8481A>C (p.Thr2827=) rs370627443
NM_001377.3(DYNC2H1):c.8782A>C (p.Lys2928Gln) rs190819700
NM_001377.3(DYNC2H1):c.8881G>A (p.Ala2961Thr) rs199568537
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027
NM_001377.3(DYNC2H1):c.9045T>G (p.Asp3015Glu) rs794727767
NM_001377.3(DYNC2H1):c.9242G>A (p.Arg3081His) rs749753983
NM_001377.3(DYNC2H1):c.9254C>T (p.Ala3085Val) rs202071528
NM_001377.3(DYNC2H1):c.9297T>C (p.Tyr3099=) rs180787556
NM_001377.3(DYNC2H1):c.9349G>A (p.Glu3117Lys)
NM_001377.3(DYNC2H1):c.9749A>G (p.Gln3250Arg) rs140830294
NM_001377.3(DYNC2H1):c.9814T>A (p.Leu3272Ile) rs200342335
NM_001377.3(DYNC2H1):c.9939T>C (p.Ala3313=) rs192003811

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