ClinVar Miner

List of variants reported as benign for Jeune thoracic dystrophy by Invitae

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ClinVar version:
Total variants: 87
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HGVS dbSNP
NM_001377.3(DYNC2H1):c.10164T>G (p.Thr3388=) rs11225634
NM_001377.3(DYNC2H1):c.1021C>T (p.His341Tyr) rs17301182
NM_001377.3(DYNC2H1):c.10314A>G (p.Glu3438=) rs369838929
NM_001377.3(DYNC2H1):c.10461A>G (p.Gln3487=) rs75143468
NM_001377.3(DYNC2H1):c.10479C>G (p.Leu3493=) rs151056947
NM_001377.3(DYNC2H1):c.10773G>A (p.Thr3591=) rs12574626
NM_001377.3(DYNC2H1):c.10834G>C (p.Asp3612His) rs116872934
NM_001377.3(DYNC2H1):c.10845G>A (p.Pro3615=) rs187451323
NM_001377.3(DYNC2H1):c.10864C>A (p.Arg3622=) rs117178504
NM_001377.3(DYNC2H1):c.10966A>G (p.Met3656Val) rs151156076
NM_001377.3(DYNC2H1):c.11039C>T (p.Ala3680Val) rs10895391
NM_001377.3(DYNC2H1):c.11238C>T (p.Ser3746=) rs78599571
NM_001377.3(DYNC2H1):c.1134+8A>G rs138290301
NM_001377.3(DYNC2H1):c.11670A>G (p.Glu3890=) rs368459657
NM_001377.3(DYNC2H1):c.11703C>T (p.Asn3901=) rs144624858
NM_001377.3(DYNC2H1):c.11726-10A>T rs185916947
NM_001377.3(DYNC2H1):c.11904C>T (p.Ser3968=) rs767613863
NM_001377.3(DYNC2H1):c.12007G>A (p.Ala4003Thr) rs61737514
NM_001377.3(DYNC2H1):c.12096T>C (p.Asp4032=) rs2566913
NM_001377.3(DYNC2H1):c.12254G>A (p.Arg4085His) rs115480556
NM_001377.3(DYNC2H1):c.1233A>G (p.Gln411=) rs116888435
NM_001377.3(DYNC2H1):c.12366+7G>A rs10895417
NM_001377.3(DYNC2H1):c.12366+8A>G rs200404815
NM_001377.3(DYNC2H1):c.12457-6C>T rs11225812
NM_001377.3(DYNC2H1):c.1263C>A (p.Phe421Leu) rs142881106
NM_001377.3(DYNC2H1):c.12865G>C (p.Gly4289Arg) rs144717489
NM_001377.3(DYNC2H1):c.1367G>A (p.Arg456Gln) rs17099969
NM_001377.3(DYNC2H1):c.1484A>C (p.Lys495Thr) rs202233363
NM_001377.3(DYNC2H1):c.195+7T>C rs112718117
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.27G>T (p.Arg9=) rs113537035
NM_001377.3(DYNC2H1):c.2860G>A (p.Glu954Lys) rs61898615
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.3384C>A (p.Ala1128=) rs199935024
NM_001377.3(DYNC2H1):c.3660T>C (p.Pro1220=) rs118191062
NM_001377.3(DYNC2H1):c.3744+9C>T rs142483417
NM_001377.3(DYNC2H1):c.3862A>G (p.Thr1288Ala) rs17301750
NM_001377.3(DYNC2H1):c.4068C>T (p.Phe1356=) rs74713170
NM_001377.3(DYNC2H1):c.4238A>G (p.Lys1413Arg) rs688906
NM_001377.3(DYNC2H1):c.4719A>G (p.Gln1573=) rs201016942
NM_001377.3(DYNC2H1):c.4728C>G (p.Asn1576Lys) rs72989738
NM_001377.3(DYNC2H1):c.4812C>T (p.Ile1604=) rs370677208
NM_001377.3(DYNC2H1):c.4959T>C (p.Tyr1653=) rs201863754
NM_001377.3(DYNC2H1):c.5439G>A (p.Arg1813=) rs371039240
NM_001377.3(DYNC2H1):c.5442C>T (p.Pro1814=) rs76833922
NM_001377.3(DYNC2H1):c.5449A>G (p.Met1817Val) rs200208000
NM_001377.3(DYNC2H1):c.5558+4A>G rs11225578
NM_001377.3(DYNC2H1):c.5559-6T>C rs369043863
NM_001377.3(DYNC2H1):c.5718C>A (p.Thr1906=) rs585692
NM_001377.3(DYNC2H1):c.6159C>T (p.Ile2053=) rs373665655
NM_001377.3(DYNC2H1):c.6420T>C (p.Asn2140=) rs11225584
NM_001377.3(DYNC2H1):c.645A>G (p.Leu215=) rs116666272
NM_001377.3(DYNC2H1):c.6478-6C>T rs114254215
NM_001377.3(DYNC2H1):c.6711A>G (p.Arg2237=) rs658804
NM_001377.3(DYNC2H1):c.6894-4G>A rs17100043
NM_001377.3(DYNC2H1):c.6909C>T (p.Tyr2303=) rs191012679
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.7122G>A (p.Leu2374=) rs116574613
NM_001377.3(DYNC2H1):c.7128A>G (p.Ala2376=) rs371410128
NM_001377.3(DYNC2H1):c.7143A>G (p.Val2381=) rs79832792
NM_001377.3(DYNC2H1):c.7198A>G (p.Ile2400Val) rs114292876
NM_001377.3(DYNC2H1):c.7319C>T (p.Thr2440Met) rs146569005
NM_001377.3(DYNC2H1):c.8271A>G (p.Gln2757=) rs183652156
NM_001377.3(DYNC2H1):c.8580A>G (p.Glu2860=) rs17394217
NM_001377.3(DYNC2H1):c.8612G>A (p.Arg2871Gln) rs589623
NM_001377.3(DYNC2H1):c.911A>T (p.Gln304Leu) rs12146610
NM_001377.3(DYNC2H1):c.9297T>C (p.Tyr3099=) rs180787556
NM_001377.3(DYNC2H1):c.9353+7G>A rs78309870
NM_001377.3(DYNC2H1):c.9749A>G (p.Gln3250Arg) rs140830294
NM_001377.3(DYNC2H1):c.9865G>C (p.Glu3289Gln) rs200326353
NM_001377.3(DYNC2H1):c.9939T>C (p.Ala3313=) rs192003811
NM_020800.3(IFT80):c.1076+9C>G rs139408398
NM_020800.3(IFT80):c.1076C>T (p.Ser359Phe) rs144099135
NM_020800.3(IFT80):c.1756A>T (p.Thr586Ser) rs6778728
NM_020800.3(IFT80):c.2139T>C (p.Asp713=) rs16831157
NM_020800.3(IFT80):c.2224-10del rs58665245
NM_020800.3(IFT80):c.2224-19dup rs58665245
NM_020800.3(IFT80):c.371-10C>A rs188321058
NM_020800.3(IFT80):c.462G>A (p.Ala154=) rs34182424
NM_020800.3(IFT80):c.879C>T (p.Val293=) rs143660757
NM_020800.3(IFT80):c.897G>A (p.Val299=) rs145776235
NM_020800.3(IFT80):c.933A>G (p.Thr311=) rs138798955
NM_020800.3(IFT80):c.937A>G (p.Thr313Ala) rs146065418

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