ClinVar Miner

List of variants in gene DYNC2H1 reported as uncertain significance for Short Rib Polydactyly Syndrome

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Total variants: 125
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HGVS dbSNP
NM_001377.3(DYNC2H1):c.*211A>G rs148091830
NM_001377.3(DYNC2H1):c.*293A>G rs540596724
NM_001377.3(DYNC2H1):c.*388A>T rs113577674
NM_001377.3(DYNC2H1):c.*558T>C rs143796055
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.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.10845G>A (p.Pro3615=) rs187451323
NM_001377.3(DYNC2H1):c.10848T>G (p.Ser3616=) rs199958495
NM_001377.3(DYNC2H1):c.10876G>A (p.Val3626Met) rs201852557
NM_001377.3(DYNC2H1):c.10975C>G (p.Gln3659Glu) rs200340319
NM_001377.3(DYNC2H1):c.11238C>T (p.Ser3746=) rs78599571
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.11578C>A (p.Arg3860=) rs777253444
NM_001377.3(DYNC2H1):c.11649+4A>T rs372714647
NM_001377.3(DYNC2H1):c.11679A>C (p.Leu3893Phe) rs748607783
NM_001377.3(DYNC2H1):c.11703C>T (p.Asn3901=) rs144624858
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.12007G>A (p.Ala4003Thr) rs61737514
NM_001377.3(DYNC2H1):c.12082G>T (p.Gly4028Cys) rs202216852
NM_001377.3(DYNC2H1):c.12254G>A (p.Arg4085His) rs115480556
NM_001377.3(DYNC2H1):c.12316T>G (p.Leu4106Val) rs139902197
NM_001377.3(DYNC2H1):c.12366+8A>G rs200404815
NM_001377.3(DYNC2H1):c.12389A>G (p.Lys4130Arg) rs368043505
NM_001377.3(DYNC2H1):c.12456+7C>T rs372189534
NM_001377.3(DYNC2H1):c.12457-13T>C rs537890566
NM_001377.3(DYNC2H1):c.12495T>C (p.Ser4165=) rs202199079
NM_001377.3(DYNC2H1):c.1263C>A (p.Phe421Leu) rs142881106
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.12766-7dup rs747006567
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.12865G>C (p.Gly4289Arg) rs144717489
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.1506T>C (p.Ile502=) rs754192939
NM_001377.3(DYNC2H1):c.195+7T>C rs112718117
NM_001377.3(DYNC2H1):c.196-13T>C rs765533229
NM_001377.3(DYNC2H1):c.2005A>G (p.Lys669Glu) rs189533535
NM_001377.3(DYNC2H1):c.2106+5A>G rs886047560
NM_001377.3(DYNC2H1):c.2244C>T (p.His748=) rs373707570
NM_001377.3(DYNC2H1):c.2385C>G (p.Ile795Met) rs780228819
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.2550G>A (p.Leu850=) rs375307767
NM_001377.3(DYNC2H1):c.266A>G (p.Glu89Gly) rs886047558
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.3012T>C (p.Gly1004=) rs202082545
NM_001377.3(DYNC2H1):c.3170G>A (p.Arg1057His) rs191381310
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.3660T>C (p.Pro1220=) rs118191062
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.3735C>T (p.Ala1245=) rs377584612
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.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.4497G>T (p.Trp1499Cys) rs886047563
NM_001377.3(DYNC2H1):c.4561A>G (p.Thr1521Ala) rs756098102
NM_001377.3(DYNC2H1):c.4611+14C>T rs766124250
NM_001377.3(DYNC2H1):c.4808T>G (p.Ile1603Ser) rs541231234
NM_001377.3(DYNC2H1):c.4918T>C (p.Cys1640Arg) rs768540376
NM_001377.3(DYNC2H1):c.4959T>C (p.Tyr1653=) rs201863754
NM_001377.3(DYNC2H1):c.5177G>A (p.Arg1726Gln) rs564701277
NM_001377.3(DYNC2H1):c.5212G>A (p.Gly1738Ser) rs370669724
NM_001377.3(DYNC2H1):c.5313A>G (p.Val1771=) rs144553338
NM_001377.3(DYNC2H1):c.5335-14A>G rs372488002
NM_001377.3(DYNC2H1):c.539T>C (p.Ile180Thr) rs886047559
NM_001377.3(DYNC2H1):c.5472T>C (p.Leu1824=) rs886047564
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.6139+7C>T rs200749262
NM_001377.3(DYNC2H1):c.6307T>A (p.Ser2103Thr) rs201003494
NM_001377.3(DYNC2H1):c.6558C>T (p.Asp2186=) rs199675558
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.7032T>A (p.Arg2344=) rs760382908
NM_001377.3(DYNC2H1):c.7143A>G (p.Val2381=) rs79832792
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.7782A>G (p.Pro2594=) rs886047566
NM_001377.3(DYNC2H1):c.7840-6dup rs886047567
NM_001377.3(DYNC2H1):c.8102C>T (p.Ala2701Val) rs765998830
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.8780C>T (p.Thr2927Met) rs752196931
NM_001377.3(DYNC2H1):c.8833-3T>C rs551227065
NM_001377.3(DYNC2H1):c.8946+10A>C rs550521675
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027
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.9297T>C (p.Tyr3099=) rs180787556
NM_001377.3(DYNC2H1):c.9577A>G (p.Ile3193Val) rs886047571
NM_001377.3(DYNC2H1):c.9749A>G (p.Gln3250Arg) rs140830294
NM_001377.3(DYNC2H1):c.9846T>C (p.Asp3282=) rs886047572
NM_001377.3(DYNC2H1):c.9865G>C (p.Glu3289Gln) rs200326353
NM_001377.3(DYNC2H1):c.9939T>C (p.Ala3313=) rs192003811

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