ClinVar Miner

List of variants in gene DYNC2H1 reported as benign for asphyxiating thoracic dystrophy 3

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_001377.3(DYNC2H1):c.5718C>A (p.Thr1906=) rs585692 0.94841
NM_001377.3(DYNC2H1):c.9107+34G>A rs670464 0.93561
NM_001377.3(DYNC2H1):c.8612G>A (p.Arg2871Gln) rs589623 0.75293
NM_001377.3(DYNC2H1):c.4238A>G (p.Lys1413Arg) rs688906 0.66697
NM_001377.3(DYNC2H1):c.6951C>T (p.His2317=) rs586592 0.64171
NM_001377.3(DYNC2H1):c.6711A>G (p.Arg2237=) rs658804 0.59243
NM_001377.3(DYNC2H1):c.12156+23G>A rs2671333 0.54518
NM_001377.3(DYNC2H1):c.12096T>C (p.Asp4032=) rs2566913 0.54510
NM_001377.3(DYNC2H1):c.12366+7G>A rs10895417 0.51079
NM_001377.3(DYNC2H1):c.10043-15G>T rs648387 0.39966
NM_001377.3(DYNC2H1):c.11039C>T (p.Ala3680Val) rs10895391 0.29753
NM_001377.3(DYNC2H1):c.10773G>A (p.Thr3591=) rs12574626 0.19492
NM_001377.3(DYNC2H1):c.11256+18C>T rs11225674 0.16562
NM_001377.3(DYNC2H1):c.11649+12C>A rs79978663 0.13559
NM_001377.3(DYNC2H1):c.6420T>C (p.Asn2140=) rs11225584 0.10418
NM_001377.3(DYNC2H1):c.8580A>G (p.Glu2860=) rs17394217 0.10011
NM_001377.3(DYNC2H1):c.5558+4A>G rs11225578 0.09042
NM_001377.3(DYNC2H1):c.1021C>T (p.His341Tyr) rs17301182 0.08896
NM_001377.3(DYNC2H1):c.3862A>G (p.Thr1288Ala) rs17301750 0.08745
NM_001377.3(DYNC2H1):c.12457-6C>T rs11225812 0.07031
NM_001377.3(DYNC2H1):c.21C>T (p.Asp7=) rs17301028 0.06471
NM_001377.3(DYNC2H1):c.911A>T (p.Gln304Leu) rs12146610 0.04434
NM_001377.3(DYNC2H1):c.2454G>A (p.Glu818=) rs77738279 0.03138
NM_001377.3(DYNC2H1):c.9353+7G>A rs78309870 0.02821
NM_001377.3(DYNC2H1):c.4728C>G (p.Asn1576Lys) rs72989738 0.02353
NM_001377.3(DYNC2H1):c.1367G>A (p.Arg456Gln) rs17099969 0.02244
NM_001377.3(DYNC2H1):c.4068C>T (p.Phe1356=) rs74713170 0.01817
NM_001377.3(DYNC2H1):c.2818+13T>C rs150786504 0.01790
NM_001377.3(DYNC2H1):c.645A>G (p.Leu215=) rs116666272 0.01688
NM_001377.3(DYNC2H1):c.3660T>C (p.Pro1220=) rs118191062 0.01583
NM_001377.3(DYNC2H1):c.10461A>G (p.Gln3487=) rs75143468 0.01568
NM_001377.3(DYNC2H1):c.7122G>A (p.Leu2374=) rs116574613 0.01532
NM_001377.3(DYNC2H1):c.-94G>T rs114993913 0.01448
NM_001377.3(DYNC2H1):c.1233A>G (p.Gln411=) rs116888435 0.01403
NM_001377.3(DYNC2H1):c.10479C>G (p.Leu3493=) rs151056947 0.01339
NM_001377.3(DYNC2H1):c.195+7T>C rs112718117 0.01205
NM_001377.3(DYNC2H1):c.2860G>A (p.Glu954Lys) rs61898615 0.01194
NM_001377.3(DYNC2H1):c.12865G>C (p.Gly4289Arg) rs144717489 0.01113
NM_001377.3(DYNC2H1):c.6478-6C>T rs114254215 0.01103
NM_001377.3(DYNC2H1):c.4968+18G>A rs144263658 0.00894
NM_001377.3(DYNC2H1):c.1485+19G>A rs111375449 0.00764
NM_001377.3(DYNC2H1):c.12254G>A (p.Arg4085His) rs115480556 0.00689
NM_001377.3(DYNC2H1):c.10864C>A (p.Arg3622=) rs117178504 0.00672
NM_001377.3(DYNC2H1):c.7198A>G (p.Ile2400Val) rs114292876 0.00632
NM_001377.3(DYNC2H1):c.10834G>C (p.Asp3612His) rs116872934 0.00628
NM_001377.3(DYNC2H1):c.12007G>A (p.Ala4003Thr) rs61737514 0.00612
NM_001377.3(DYNC2H1):c.11703C>T (p.Asn3901=) rs144624858 0.00606
NM_001377.3(DYNC2H1):c.10966A>G (p.Met3656Val) rs151156076 0.00599
NM_001377.3(DYNC2H1):c.27G>T (p.Arg9=) rs113537035 0.00594
NM_001377.3(DYNC2H1):c.11726-10A>T rs185916947 0.00561
NM_001377.3(DYNC2H1):c.11238C>T (p.Ser3746=) rs78599571 0.00555
NM_001377.3(DYNC2H1):c.3097-4A>G rs368802969 0.00476
NM_001377.3(DYNC2H1):c.5442C>T (p.Pro1814=) rs76833922 0.00476
NM_001377.3(DYNC2H1):c.6477+14A>T rs111970770 0.00460
NM_001377.3(DYNC2H1):c.1263C>A (p.Phe421Leu) rs142881106 0.00365
NM_001377.3(DYNC2H1):c.3012T>C (p.Gly1004=) rs202082545 0.00344
NM_001377.3(DYNC2H1):c.8881G>A (p.Ala2961Thr) rs199568537 0.00317
NM_001377.3(DYNC2H1):c.6478-17C>T rs61899765 0.00172
NM_001377.3(DYNC2H1):c.1661+16T>C rs187129481 0.00164
NM_001377.3(DYNC2H1):c.12566+17A>G rs187787132 0.00113
NM_001377.3(DYNC2H1):c.*211A>G rs148091830 0.00083
NM_001377.3(DYNC2H1):c.7143A>G (p.Val2381=) rs79832792 0.00057
NM_001377.3(DYNC2H1):c.10164T>G (p.Thr3388=) rs11225634
NM_001377.3(DYNC2H1):c.11382+18_11382+19insGGT rs3834451
NM_001377.3(DYNC2H1):c.3574-8del rs5794210
NM_001377.3(DYNC2H1):c.7540+14G>A rs115273161

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