ClinVar Miner

List of variants reported as likely pathogenic for asphyxiating thoracic dystrophy 3

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 143
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HGVS dbSNP gnomAD frequency
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val) rs137853026 0.00105
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_001377.3(DYNC2H1):c.10198C>T (p.Arg3400Ter) rs943680446 0.00016
NM_001377.3(DYNC2H1):c.10573C>T (p.Arg3525Ter) rs181011657 0.00014
NM_001377.3(DYNC2H1):c.5983G>A (p.Ala1995Thr) rs552436294 0.00011
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro) rs771487311 0.00007
NM_001377.3(DYNC2H1):c.625T>A (p.Phe209Ile) rs771511132 0.00005
NM_020779.4(WDR35):c.2415-2A>G rs143550695 0.00005
NM_001377.3(DYNC2H1):c.10100G>A (p.Arg3367His) rs759549373 0.00004
NM_001377.3(DYNC2H1):c.12829A>G (p.Arg4277Gly) rs368654019 0.00004
NM_001377.3(DYNC2H1):c.6480T>A (p.Asn2160Lys) rs775426647 0.00004
NM_001377.3(DYNC2H1):c.740G>A (p.Arg247Gln) rs761391585 0.00004
NM_001377.3(DYNC2H1):c.7594C>T (p.Arg2532Trp) rs1350329646 0.00004
NM_001377.3(DYNC2H1):c.8145C>A (p.Tyr2715Ter) rs371940321 0.00004
NM_018051.5(DYNC2I1):c.2305G>A (p.Glu769Lys) rs193204571 0.00004
NM_020779.4(WDR35):c.1255+1G>A rs371669862 0.00004
NM_052844.4(DYNC2I2):c.1339C>T (p.Arg447Trp) rs587777093 0.00004
NM_174905.4(FAM98C):c.844C>T (p.Arg282Ter) rs201037487 0.00004
NM_001377.3(DYNC2H1):c.10142C>T (p.Pro3381Leu) rs368631447 0.00003
NM_001377.3(DYNC2H1):c.12439C>T (p.Arg4147Cys) rs755441612 0.00003
NM_001377.3(DYNC2H1):c.4267C>T (p.Arg1423Cys) rs745870321 0.00003
NM_001377.3(DYNC2H1):c.7966C>T (p.Arg2656Cys) rs371214841 0.00003
NM_001377.3(DYNC2H1):c.9353+1G>A rs776407305 0.00003
NM_001377.3(DYNC2H1):c.9565C>T (p.Gln3189Ter) rs373924400 0.00003
NM_020779.4(WDR35):c.932G>T (p.Trp311Leu) rs200649783 0.00003
NM_001377.3(DYNC2H1):c.10042+2T>G rs1261505725 0.00002
NM_001377.3(DYNC2H1):c.11312C>T (p.Ala3771Val) rs760635983 0.00002
NM_001377.3(DYNC2H1):c.11829C>G (p.Tyr3943Ter) rs369658526 0.00002
NM_001377.3(DYNC2H1):c.1360+2del rs780539887 0.00002
NM_001377.3(DYNC2H1):c.8512C>T (p.Arg2838Ter) rs137853032 0.00002
NM_001377.3(DYNC2H1):c.10585C>T (p.Arg3529Ter) rs562139820 0.00001
NM_001377.3(DYNC2H1):c.12642_12643insT (p.Ile4215fs) rs756811136 0.00001
NM_001377.3(DYNC2H1):c.1759C>T (p.Arg587Cys) rs137853030 0.00001
NM_001377.3(DYNC2H1):c.3059T>G (p.Leu1020Ter) rs373335226 0.00001
NM_001377.3(DYNC2H1):c.327C>G (p.Tyr109Ter) rs755305630 0.00001
NM_001377.3(DYNC2H1):c.4625C>T (p.Ala1542Val) rs1043384862 0.00001
NM_001377.3(DYNC2H1):c.4964A>G (p.Tyr1655Cys) rs1461272672 0.00001
NM_001377.3(DYNC2H1):c.5876T>A (p.Ile1959Asn) rs756556129 0.00001
NM_001377.3(DYNC2H1):c.6866T>C (p.Leu2289Pro) rs1555061205 0.00001
NM_001377.3(DYNC2H1):c.7112C>T (p.Thr2371Ile) rs1322884865 0.00001
NM_001377.3(DYNC2H1):c.7409C>G (p.Ala2470Gly) rs1555062849 0.00001
NM_001377.3(DYNC2H1):c.7577T>G (p.Ile2526Ser) rs762588952 0.00001
NM_001377.3(DYNC2H1):c.7643T>C (p.Phe2548Ser) rs1555064376 0.00001
NM_001377.3(DYNC2H1):c.767-2A>G rs762873763 0.00001
NM_001377.3(DYNC2H1):c.7984C>T (p.Arg2662Trp) rs964711006 0.00001
NM_001377.3(DYNC2H1):c.7985G>A (p.Arg2662Gln) rs397514635 0.00001
NM_001377.3(DYNC2H1):c.8050G>T (p.Gly2684Ter) rs747857715 0.00001
NM_001377.3(DYNC2H1):c.9313C>T (p.Arg3105Ter) rs777932973 0.00001
NM_001377.3(DYNC2H1):c.9844G>A (p.Asp3282Asn) rs780600124 0.00001
NM_001377.3(DYNC2H1):c.988C>T (p.Arg330Cys) rs397514637 0.00001
NM_018051.5(DYNC2I1):c.2284C>T (p.Arg762Ter) rs1456300819 0.00001
NM_018051.5(DYNC2I1):c.2841del (p.Gln947fs) rs748645101 0.00001
NM_052844.4(DYNC2I2):c.1397A>C (p.Gln466Pro) rs1554770620 0.00001
NM_001006657.2(WDR35):c.1195-2A>T
NM_001377.3(DYNC2H1):c.10100G>T (p.Arg3367Leu) rs759549373
NM_001377.3(DYNC2H1):c.10594C>T (p.Gln3532Ter) rs1565438488
NM_001377.3(DYNC2H1):c.10603C>T (p.Gln3535Ter) rs1555082470
NM_001377.3(DYNC2H1):c.1078C>T (p.Arg360Ter) rs764769351
NM_001377.3(DYNC2H1):c.11320G>A (p.Gly3774Arg) rs2135399555
NM_001377.3(DYNC2H1):c.11390dup (p.Asn3797fs)
NM_001377.3(DYNC2H1):c.11713_11716del (p.Arg3905fs) rs1453448143
NM_001377.3(DYNC2H1):c.12457-1G>C rs2135805319
NM_001377.3(DYNC2H1):c.12466_12469del (p.Asp4156fs) rs766816050
NM_001377.3(DYNC2H1):c.12831G>T (p.Arg4277Ser) rs372878677
NM_001377.3(DYNC2H1):c.1657_1660del (p.Leu553fs) rs748906528
NM_001377.3(DYNC2H1):c.1847_1852del (p.Ile616_Leu617del) rs773897318
NM_001377.3(DYNC2H1):c.193A>C (p.Thr65Pro) rs555339053
NM_001377.3(DYNC2H1):c.1949T>A (p.Ile650Asn) rs1555041449
NM_001377.3(DYNC2H1):c.195G>T (p.Thr65=) rs896105030
NM_001377.3(DYNC2H1):c.2341T>G (p.Tyr781Asp) rs1555043520
NM_001377.3(DYNC2H1):c.2353C>T (p.Arg785Ter) rs755883373
NM_001377.3(DYNC2H1):c.2579_2580delinsAA (p.Trp860Ter)
NM_001377.3(DYNC2H1):c.2702+1G>A rs864622358
NM_001377.3(DYNC2H1):c.3638T>G (p.Leu1213Arg) rs886039812
NM_001377.3(DYNC2H1):c.3847G>C (p.Asp1283His) rs1555050986
NM_001377.3(DYNC2H1):c.4162_4170dup (p.Val1388_Thr1390dup) rs1555051720
NM_001377.3(DYNC2H1):c.4219C>T (p.Gln1407Ter)
NM_001377.3(DYNC2H1):c.4458del (p.Phe1486fs) rs1555052524
NM_001377.3(DYNC2H1):c.4698del (p.Gln1566fs) rs1565359085
NM_001377.3(DYNC2H1):c.4699C>G (p.Leu1567Val) rs901629870
NM_001377.3(DYNC2H1):c.4820T>A (p.Ile1607Asn) rs1555054771
NM_001377.3(DYNC2H1):c.499C>T (p.Arg167Ter) rs755464335
NM_001377.3(DYNC2H1):c.5129T>A (p.Val1710Asp) rs777396565
NM_001377.3(DYNC2H1):c.5495C>A (p.Ser1832Ter) rs754919042
NM_001377.3(DYNC2H1):c.5559-1G>C rs2134979684
NM_001377.3(DYNC2H1):c.5959A>G (p.Thr1987Ala) rs137853035
NM_001377.3(DYNC2H1):c.5971A>T (p.Met1991Leu) rs137853025
NM_001377.3(DYNC2H1):c.6023T>C (p.Met2008Thr) rs2134994767
NM_001377.3(DYNC2H1):c.6035C>T (p.Ala2012Val)
NM_001377.3(DYNC2H1):c.6116G>A (p.Arg2039His) rs1555057503
NM_001377.3(DYNC2H1):c.6271A>G (p.Asn2091Asp) rs1555057881
NM_001377.3(DYNC2H1):c.6381dup (p.Ser2128fs)
NM_001377.3(DYNC2H1):c.6387G>T (p.Trp2129Cys) rs1332318318
NM_001377.3(DYNC2H1):c.6439G>T (p.Asp2147Tyr)
NM_001377.3(DYNC2H1):c.6477G>A (p.Gln2159=)
NM_001377.3(DYNC2H1):c.6545G>A (p.Cys2182Tyr) rs780855765
NM_001377.3(DYNC2H1):c.6562T>C (p.Phe2188Leu) rs1555060411
NM_001377.3(DYNC2H1):c.6574C>T (p.Leu2192Phe) rs1243999036
NM_001377.3(DYNC2H1):c.6614G>A (p.Arg2205His) rs137853031
NM_001377.3(DYNC2H1):c.6634-2A>G rs1555060940
NM_001377.3(DYNC2H1):c.6834G>T (p.Trp2278Cys) rs1384888093
NM_001377.3(DYNC2H1):c.6883T>C (p.Cys2295Arg) rs1555061228
NM_001377.3(DYNC2H1):c.6910G>A (p.Ala2304Thr) rs747348765
NM_001377.3(DYNC2H1):c.7268C>A (p.Ser2423Tyr) rs1555062340
NM_001377.3(DYNC2H1):c.7276C>T (p.Arg2426Cys)
NM_001377.3(DYNC2H1):c.7438-2A>G rs1555063811
NM_001377.3(DYNC2H1):c.7525T>C (p.Tyr2509His) rs1386343205
NM_001377.3(DYNC2H1):c.7547C>G (p.Ser2516Ter)
NM_001377.3(DYNC2H1):c.7774_7782del (p.Leu2592_Pro2594del) rs1555066796
NM_001377.3(DYNC2H1):c.7967G>T (p.Arg2656Leu) rs200614421
NM_001377.3(DYNC2H1):c.7972G>C (p.Gly2658Arg) rs1268066804
NM_001377.3(DYNC2H1):c.8070C>G (p.Phe2690Leu) rs1214801816
NM_001377.3(DYNC2H1):c.8190G>T (p.Leu2730Phe) rs770800903
NM_001377.3(DYNC2H1):c.8283del (p.Phe2761fs) rs1862810311
NM_001377.3(DYNC2H1):c.8310T>G (p.Tyr2770Ter) rs1437320571
NM_001377.3(DYNC2H1):c.8339T>C (p.Leu2780Ser) rs1565394086
NM_001377.3(DYNC2H1):c.8484_8485del (p.Gly2829fs)
NM_001377.3(DYNC2H1):c.8729T>C (p.Leu2910Pro) rs1555071484
NM_001377.3(DYNC2H1):c.8769_8770del (p.Leu2924fs) rs1555071503
NM_001377.3(DYNC2H1):c.8951del (p.Pro2983_Leu2984insTer)
NM_001377.3(DYNC2H1):c.9440+4A>G
NM_001377.3(DYNC2H1):c.9710-2A>G rs1555077194
NM_001377.3(DYNC2H1):c.9820A>C (p.Ser3274Arg) rs371932985
NM_018051.5(DYNC2I1):c.1162del (p.Cys388fs) rs1554460624
NM_018051.5(DYNC2I1):c.2503_2505dup (p.Arg835dup) rs1554478948
NM_018051.5(DYNC2I1):c.772_775del (p.Glu258fs) rs1843823774
NM_018051.5(DYNC2I1):c.898C>T (p.Arg300Ter) rs780061154
NM_018051.5(DYNC2I1):c.899G>T (p.Arg300Leu) rs899172501
NM_020779.4(WDR35):c.1255+1G>C rs371669862
NM_020779.4(WDR35):c.1400G>A (p.Arg467Lys) rs1558342399
NM_020779.4(WDR35):c.1525-2A>T
NM_020779.4(WDR35):c.1846-30_1848del rs1553317813
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp) rs765513105
NM_020779.4(WDR35):c.504T>A (p.Ser168Arg) rs397515536
NM_020779.4(WDR35):c.570+2T>G
NM_052844.4(DYNC2I2):c.1060A>G (p.Thr354Ala) rs1554771066
NM_052844.4(DYNC2I2):c.1103_1104del (p.Glu368fs) rs759150616
NM_052844.4(DYNC2I2):c.1312_1313del (p.Leu438fs) rs753802842
NM_052844.4(DYNC2I2):c.1340_1341delinsTA (p.Arg447Leu) rs1860309810
NM_052844.4(DYNC2I2):c.1418_1419del (p.Thr473fs) rs755570414
NM_052844.4(DYNC2I2):c.546-1_547del
NM_052844.4(DYNC2I2):c.629del (p.Pro210fs) rs2132146546
NM_152766.5(TMEM256):c.244_265del (p.Phe82fs) rs886039795

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