ClinVar Miner

List of variants reported as benign for asphyxiating thoracic dystrophy 3 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_020779.4(WDR35):c.2824-14G>T rs1191779 0.96807
NM_001377.3(DYNC2H1):c.5718C>A (p.Thr1906=) rs585692 0.94841
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.12096T>C (p.Asp4032=) rs2566913 0.54510
NM_001377.3(DYNC2H1):c.12366+7G>A rs10895417 0.51079
NM_020779.4(WDR35):c.2496A>G (p.Glu832=) rs6741091 0.45165
NM_001377.3(DYNC2H1):c.10043-15G>T rs648387 0.39966
NM_020779.4(WDR35):c.2915A>G (p.Glu972Gly) rs1191778 0.31383
NM_001377.3(DYNC2H1):c.11039C>T (p.Ala3680Val) rs10895391 0.29753
NM_020779.4(WDR35):c.*523G>A rs957614 0.25621
NM_020779.4(WDR35):c.*231C>A rs1056233 0.25618
NM_001377.3(DYNC2H1):c.10773G>A (p.Thr3591=) rs12574626 0.19492
NM_001377.3(DYNC2H1):c.11649+12C>A rs79978663 0.13559
NM_001377.3(DYNC2H1):c.6420T>C (p.Asn2140=) rs11225584 0.10418
NM_020779.4(WDR35):c.3121+12A>C rs28502265 0.10214
NM_020779.4(WDR35):c.*1050T>C rs10197890 0.10201
NM_020779.4(WDR35):c.*98T>C rs6748924 0.10155
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_020779.4(WDR35):c.*2463C>T rs3731661 0.07941
NM_020779.4(WDR35):c.53A>G (p.Gln18Arg) rs1060742 0.07465
NM_001377.3(DYNC2H1):c.12457-6C>T rs11225812 0.07031
NM_001377.3(DYNC2H1):c.21C>T (p.Asp7=) rs17301028 0.06471
NM_020779.4(WDR35):c.2599G>A (p.Ala867Thr) rs2293669 0.05563
NM_020779.4(WDR35):c.*1489G>A rs10182866 0.05128
NM_001377.3(DYNC2H1):c.911A>T (p.Gln304Leu) rs12146610 0.04434
NM_020779.4(WDR35):c.*1127A>G rs75503594 0.04161
NM_020779.4(WDR35):c.*2957G>A rs76072774 0.03646
NM_020779.4(WDR35):c.549C>T (p.Tyr183=) rs34169020 0.03645
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_020779.4(WDR35):c.*2836C>T rs74469198 0.02096
NM_020779.4(WDR35):c.*2408G>C rs112569580 0.01898
NM_001377.3(DYNC2H1):c.4068C>T (p.Phe1356=) rs74713170 0.01817
NM_020779.4(WDR35):c.*3268C>T rs113280329 0.01807
NM_020779.4(WDR35):c.*1479C>T rs77400381 0.01800
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_020779.4(WDR35):c.*1129C>T rs76845713 0.01385
NM_001377.3(DYNC2H1):c.10479C>G (p.Leu3493=) rs151056947 0.01339
NM_020779.4(WDR35):c.*553G>T rs79153401 0.01323
NM_001377.3(DYNC2H1):c.195+7T>C rs112718117 0.01205
NM_001377.3(DYNC2H1):c.2860G>A (p.Glu954Lys) rs61898615 0.01194
NM_020779.4(WDR35):c.3019C>T (p.Arg1007Cys) rs56395266 0.01130
NM_001377.3(DYNC2H1):c.12865G>C (p.Gly4289Arg) rs144717489 0.01113
NM_001377.3(DYNC2H1):c.6478-6C>T rs114254215 0.01103
NM_020779.4(WDR35):c.1089G>A (p.Thr363=) rs79829477 0.00817
NM_001377.3(DYNC2H1):c.12254G>A (p.Arg4085His) rs115480556 0.00689
NM_001377.3(DYNC2H1):c.10834G>C (p.Asp3612His) rs116872934 0.00628
NM_020779.4(WDR35):c.*1406A>G rs10197681 0.00613
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.11726-10A>T rs185916947 0.00561
NM_001377.3(DYNC2H1):c.11238C>T (p.Ser3746=) rs78599571 0.00555
NM_001377.3(DYNC2H1):c.8881G>A (p.Ala2961Thr) rs199568537 0.00317
NM_020779.4(WDR35):c.2566G>T (p.Val856Phe) rs149667250 0.00188
NM_020779.4(WDR35):c.*2623T>C rs538967974 0.00121
NM_020779.4(WDR35):c.*2622A>G rs558837510 0.00116
NM_020779.4(WDR35):c.2149A>G (p.Ile717Val) rs144493712 0.00089
NM_001377.3(DYNC2H1):c.*211A>G rs148091830 0.00083
NM_001377.3(DYNC2H1):c.7143A>G (p.Val2381=) rs79832792 0.00057
NM_020779.4(WDR35):c.*487C>T rs116951767 0.00056
NM_020779.4(WDR35):c.765C>T (p.Tyr255=) rs117255034 0.00013
NM_001377.3(DYNC2H1):c.10164T>G (p.Thr3388=) rs11225634
NM_001377.3(DYNC2H1):c.7540+14G>A rs115273161
NM_020779.4(WDR35):c.*978A>G rs149444449
NM_020779.4(WDR35):c.1058G>C (p.Arg353Pro) rs76623454

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