ClinVar Miner

List of variants in gene DYNC2H1 reported as uncertain significance for Short-rib thoracic dysplasia 3 with or without polydactyly

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Gene type:
ClinVar version:
Total variants: 187
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HGVS dbSNP
NM_001377.3(DYNC2H1):c.*270A>G
NM_001377.3(DYNC2H1):c.*293A>G rs540596724
NM_001377.3(DYNC2H1):c.*321T>C
NM_001377.3(DYNC2H1):c.*388A>T rs113577674
NM_001377.3(DYNC2H1):c.*435A>G
NM_001377.3(DYNC2H1):c.*52A>T
NM_001377.3(DYNC2H1):c.*558T>C rs143796055
NM_001377.3(DYNC2H1):c.-148T>C
NM_001377.3(DYNC2H1):c.-33C>T rs547159267
NM_001377.3(DYNC2H1):c.1000-7A>G rs745325616
NM_001377.3(DYNC2H1):c.10021A>C (p.Arg3341=) rs886047573
NM_001377.3(DYNC2H1):c.10043-7T>A rs376067770
NM_001377.3(DYNC2H1):c.1007C>T (p.Ala336Val) rs182506343
NM_001377.3(DYNC2H1):c.10152T>G (p.Ala3384=) rs886047574
NM_001377.3(DYNC2H1):c.10199G>A (p.Arg3400Gln) rs775615484
NM_001377.3(DYNC2H1):c.10230T>C (p.His3410=)
NM_001377.3(DYNC2H1):c.10261A>G (p.Lys3421Glu) rs372204188
NM_001377.3(DYNC2H1):c.10326+6A>G rs750262824
NM_001377.3(DYNC2H1):c.10466G>T (p.Arg3489Leu) rs755858936
NM_001377.3(DYNC2H1):c.10491G>C (p.Glu3497Asp) rs886047575
NM_001377.3(DYNC2H1):c.10532A>C (p.Lys3511Thr) rs772570923
NM_001377.3(DYNC2H1):c.10550G>A (p.Arg3517His) rs188113889
NM_001377.3(DYNC2H1):c.10845G>A (p.Pro3615=) rs187451323
NM_001377.3(DYNC2H1):c.10876G>A (p.Val3626Met) rs201852557
NM_001377.3(DYNC2H1):c.11048C>T (p.Pro3683Leu) rs1297881996
NM_001377.3(DYNC2H1):c.11139A>G (p.Leu3713=)
NM_001377.3(DYNC2H1):c.11185C>T (p.Pro3729Ser)
NM_001377.3(DYNC2H1):c.11253C>T (p.His3751=)
NM_001377.3(DYNC2H1):c.11287G>A (p.Ala3763Thr) rs780426783
NM_001377.3(DYNC2H1):c.11310T>G (p.Cys3770Trp) rs771899759
NM_001377.3(DYNC2H1):c.1134+8A>G rs138290301
NM_001377.3(DYNC2H1):c.11416C>T (p.Arg3806Cys)
NM_001377.3(DYNC2H1):c.11578C>A (p.Arg3860=) rs777253444
NM_001377.3(DYNC2H1):c.11635A>C (p.Asn3879His)
NM_001377.3(DYNC2H1):c.11649+4A>T rs372714647
NM_001377.3(DYNC2H1):c.11679A>C (p.Leu3893Phe) rs748607783
NM_001377.3(DYNC2H1):c.11742A>G (p.Gln3914=)
NM_001377.3(DYNC2H1):c.11905G>A (p.Val3969Ile) rs189100009
NM_001377.3(DYNC2H1):c.11929A>C (p.Ile3977Leu) rs757571550
NM_001377.3(DYNC2H1):c.11942G>A (p.Arg3981His) rs755554260
NM_001377.3(DYNC2H1):c.11970C>T (p.Asp3990=)
NM_001377.3(DYNC2H1):c.12039+15A>G rs184350782
NM_001377.3(DYNC2H1):c.12082G>T (p.Gly4028Cys) rs202216852
NM_001377.3(DYNC2H1):c.12389A>G (p.Lys4130Arg) rs368043505
NM_001377.3(DYNC2H1):c.12410C>G (p.Pro4137Arg) rs761765709
NM_001377.3(DYNC2H1):c.12416A>G (p.Gln4139Arg)
NM_001377.3(DYNC2H1):c.12456+7C>T rs372189534
NM_001377.3(DYNC2H1):c.12495T>C (p.Ser4165=) rs202199079
NM_001377.3(DYNC2H1):c.12622C>T (p.Leu4208=) rs752163457
NM_001377.3(DYNC2H1):c.12648+5T>C
NM_001377.3(DYNC2H1):c.12693A>G (p.Gln4231=)
NM_001377.3(DYNC2H1):c.12703A>T (p.Asn4235Tyr) rs886047580
NM_001377.3(DYNC2H1):c.12704A>G (p.Asn4235Ser) rs886047581
NM_001377.3(DYNC2H1):c.12736C>T (p.Leu4246Phe)
NM_001377.3(DYNC2H1):c.12766G>C (p.Asp4256His) rs772516163
NM_001377.3(DYNC2H1):c.12817A>C (p.Thr4273Pro) rs374409204
NM_001377.3(DYNC2H1):c.12854A>G (p.Asp4285Gly) rs886047583
NM_001377.3(DYNC2H1):c.12909C>A (p.Phe4303Leu) rs191971137
NM_001377.3(DYNC2H1):c.1320A>C (p.Glu440Asp) rs760475860
NM_001377.3(DYNC2H1):c.1350C>T (p.Asp450=)
NM_001377.3(DYNC2H1):c.1384C>T (p.Arg462Trp)
NM_001377.3(DYNC2H1):c.1484A>C (p.Lys495Thr) rs202233363
NM_001377.3(DYNC2H1):c.1484A>G (p.Lys495Arg)
NM_001377.3(DYNC2H1):c.1506T>C (p.Ile502=) rs754192939
NM_001377.3(DYNC2H1):c.1662-3T>C rs548328948
NM_001377.3(DYNC2H1):c.1732C>G (p.Arg578Gly)
NM_001377.3(DYNC2H1):c.1774C>T (p.Leu592Phe) rs180861816
NM_001377.3(DYNC2H1):c.196-13T>C rs765533229
NM_001377.3(DYNC2H1):c.2106+5A>G rs886047560
NM_001377.3(DYNC2H1):c.2244C>T (p.His748=) rs373707570
NM_001377.3(DYNC2H1):c.2312A>C (p.Asn771Thr)
NM_001377.3(DYNC2H1):c.2345+9T>C
NM_001377.3(DYNC2H1):c.2385C>G (p.Ile795Met) rs780228819
NM_001377.3(DYNC2H1):c.2439T>C (p.Phe813=)
NM_001377.3(DYNC2H1):c.2470A>G (p.Ile824Val) rs758399640
NM_001377.3(DYNC2H1):c.2479A>G (p.Ile827Val) rs201224700
NM_001377.3(DYNC2H1):c.2533G>A (p.Asp845Asn)
NM_001377.3(DYNC2H1):c.2550G>A (p.Leu850=) rs375307767
NM_001377.3(DYNC2H1):c.2574+9C>T
NM_001377.3(DYNC2H1):c.2669A>T (p.Lys890Ile)
NM_001377.3(DYNC2H1):c.266A>G (p.Glu89Gly) rs886047558
NM_001377.3(DYNC2H1):c.2828A>G (p.His943Arg)
NM_001377.3(DYNC2H1):c.282C>A (p.Asn94Lys)
NM_001377.3(DYNC2H1):c.291T>A (p.Val97=) rs377529350
NM_001377.3(DYNC2H1):c.2922T>C (p.Ser974=) rs761013187
NM_001377.3(DYNC2H1):c.2935C>T (p.Arg979Trp)
NM_001377.3(DYNC2H1):c.3046G>C (p.Asp1016His)
NM_001377.3(DYNC2H1):c.3128G>A (p.Arg1043His)
NM_001377.3(DYNC2H1):c.3138C>G (p.Ile1046Met)
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.337C>T (p.Arg113Trp) rs745569868
NM_001377.3(DYNC2H1):c.33C>T (p.Leu11=) rs373977008
NM_001377.3(DYNC2H1):c.3419G>T (p.Gly1140Val) rs201043335
NM_001377.3(DYNC2H1):c.3573+5G>T rs886047561
NM_001377.3(DYNC2H1):c.3643C>T (p.Arg1215Cys) rs746768637
NM_001377.3(DYNC2H1):c.366+10G>A rs200257097
NM_001377.3(DYNC2H1):c.3662G>C (p.Arg1221Thr) rs12794914
NM_001377.3(DYNC2H1):c.3665G>A (p.Gly1222Glu) rs201194631
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840
NM_001377.3(DYNC2H1):c.3685C>G (p.Leu1229Val)
NM_001377.3(DYNC2H1):c.3735C>T (p.Ala1245=) rs377584612
NM_001377.3(DYNC2H1):c.3744A>G (p.Lys1248=)
NM_001377.3(DYNC2H1):c.3794G>A (p.Arg1265His) rs200635842
NM_001377.3(DYNC2H1):c.391G>C (p.Asp131His) rs759690887
NM_001377.3(DYNC2H1):c.3920G>A (p.Cys1307Tyr)
NM_001377.3(DYNC2H1):c.4002G>A (p.Glu1334=) rs886047562
NM_001377.3(DYNC2H1):c.4127+10A>G rs369188420
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.4497G>T (p.Trp1499Cys) rs886047563
NM_001377.3(DYNC2H1):c.4561A>G (p.Thr1521Ala) rs756098102
NM_001377.3(DYNC2H1):c.4597C>A (p.Leu1533Met)
NM_001377.3(DYNC2H1):c.4611+14C>T rs766124250
NM_001377.3(DYNC2H1):c.4718A>C (p.Gln1573Pro)
NM_001377.3(DYNC2H1):c.4808T>G (p.Ile1603Ser) rs541231234
NM_001377.3(DYNC2H1):c.4900A>G (p.Met1634Val)
NM_001377.3(DYNC2H1):c.4918T>C (p.Cys1640Arg) rs768540376
NM_001377.3(DYNC2H1):c.4923T>C (p.Cys1641=)
NM_001377.3(DYNC2H1):c.4959T>C (p.Tyr1653=) rs201863754
NM_001377.3(DYNC2H1):c.5212G>A (p.Gly1738Ser) rs370669724
NM_001377.3(DYNC2H1):c.5335-11T>G
NM_001377.3(DYNC2H1):c.539T>C (p.Ile180Thr) rs886047559
NM_001377.3(DYNC2H1):c.5449A>G (p.Met1817Val) rs200208000
NM_001377.3(DYNC2H1):c.5472T>C (p.Leu1824=) rs886047564
NM_001377.3(DYNC2H1):c.5508A>G (p.Lys1836=) rs201305322
NM_001377.3(DYNC2H1):c.5511C>T (p.Asp1837=) rs201953670
NM_001377.3(DYNC2H1):c.5512G>A (p.Ala1838Thr) rs777912444
NM_001377.3(DYNC2H1):c.5642G>A (p.Arg1881Lys) rs199541807
NM_001377.3(DYNC2H1):c.5695G>A (p.Val1899Ile) rs150887098
NM_001377.3(DYNC2H1):c.5791T>A (p.Leu1931Met) rs776705698
NM_001377.3(DYNC2H1):c.5793G>C (p.Leu1931Phe) rs185504536
NM_001377.3(DYNC2H1):c.5873A>G (p.Gln1958Arg)
NM_001377.3(DYNC2H1):c.5913G>C (p.Gln1971His)
NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys) rs200190291
NM_001377.3(DYNC2H1):c.6139+7C>T rs200749262
NM_001377.3(DYNC2H1):c.6307T>A (p.Ser2103Thr) rs201003494
NM_001377.3(DYNC2H1):c.6372T>C (p.Ser2124=)
NM_001377.3(DYNC2H1):c.6558C>T (p.Asp2186=) rs199675558
NM_001377.3(DYNC2H1):c.6691T>A (p.Tyr2231Asn)
NM_001377.3(DYNC2H1):c.6769G>A (p.Gly2257Ser)
NM_001377.3(DYNC2H1):c.6849T>G (p.Thr2283=) rs886047565
NM_001377.3(DYNC2H1):c.6931A>G (p.Thr2311Ala) rs760509494
NM_001377.3(DYNC2H1):c.7031G>A (p.Arg2344His)
NM_001377.3(DYNC2H1):c.7032T>A (p.Arg2344=) rs760382908
NM_001377.3(DYNC2H1):c.7085A>G (p.Asn2362Ser)
NM_001377.3(DYNC2H1):c.7140+8A>G
NM_001377.3(DYNC2H1):c.7209G>A (p.Val2403=) rs371948128
NM_001377.3(DYNC2H1):c.7293-13C>G
NM_001377.3(DYNC2H1):c.7304G>A (p.Arg2435Lys)
NM_001377.3(DYNC2H1):c.7452T>G (p.Phe2484Leu)
NM_001377.3(DYNC2H1):c.7462G>A (p.Asp2488Asn) rs201825699
NM_001377.3(DYNC2H1):c.7597C>T (p.Arg2533Cys) rs754889986
NM_001377.3(DYNC2H1):c.7625C>T (p.Ala2542Val)
NM_001377.3(DYNC2H1):c.7782A>G (p.Pro2594=) rs886047566
NM_001377.3(DYNC2H1):c.7828G>A (p.Val2610Ile)
NM_001377.3(DYNC2H1):c.7837A>G (p.Lys2613Glu)
NM_001377.3(DYNC2H1):c.7967G>A (p.Arg2656His) rs200614421
NM_001377.3(DYNC2H1):c.8041A>G (p.Ile2681Val) rs201540484
NM_001377.3(DYNC2H1):c.8102C>T (p.Ala2701Val) rs765998830
NM_001377.3(DYNC2H1):c.8149T>C (p.Phe2717Leu)
NM_001377.3(DYNC2H1):c.8236C>A (p.Pro2746Thr)
NM_001377.3(DYNC2H1):c.8293T>G (p.Phe2765Val) rs199503535
NM_001377.3(DYNC2H1):c.8311+10A>G rs376842066
NM_001377.3(DYNC2H1):c.8351C>T (p.Ser2784Phe) rs886047568
NM_001377.3(DYNC2H1):c.8365T>C (p.Phe2789Leu) rs184910011
NM_001377.3(DYNC2H1):c.8473A>G (p.Ser2825Gly) rs886047569
NM_001377.3(DYNC2H1):c.8481A>C (p.Thr2827=) rs370627443
NM_001377.3(DYNC2H1):c.8504A>T (p.Asp2835Val)
NM_001377.3(DYNC2H1):c.8539+5T>C
NM_001377.3(DYNC2H1):c.8585G>A (p.Cys2862Tyr)
NM_001377.3(DYNC2H1):c.8780C>T (p.Thr2927Met) rs752196931
NM_001377.3(DYNC2H1):c.8885_8887AAG[1] (p.Glu2963del) rs770387587
NM_001377.3(DYNC2H1):c.8946+10A>C rs550521675
NM_001377.3(DYNC2H1):c.8991C>T (p.Pro2997=)
NM_001377.3(DYNC2H1):c.9122G>A (p.Arg3041Lys) rs886047570
NM_001377.3(DYNC2H1):c.9217T>C (p.Ser3073Pro) rs199970220
NM_001377.3(DYNC2H1):c.9231+12G>A rs369045696
NM_001377.3(DYNC2H1):c.9349G>A (p.Glu3117Lys) rs200870508
NM_001377.3(DYNC2H1):c.9384G>A (p.Arg3128=)
NM_001377.3(DYNC2H1):c.9391G>A (p.Glu3131Lys)
NM_001377.3(DYNC2H1):c.9463G>A (p.Ala3155Thr)
NM_001377.3(DYNC2H1):c.9568-13C>G
NM_001377.3(DYNC2H1):c.9577A>G (p.Ile3193Val) rs886047571
NM_001377.3(DYNC2H1):c.9585G>C (p.Glu3195Asp) rs758118161
NM_001377.3(DYNC2H1):c.9865G>C (p.Glu3289Gln) rs200326353
NM_001377.3(DYNC2H1):c.9968C>G (p.Thr3323Ser)

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