ClinVar Miner

List of variants studied for asphyxiating thoracic dystrophy 3 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 95
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HGVS dbSNP gnomAD frequency
NM_001377.3(DYNC2H1):c.6420T>C (p.Asn2140=) rs11225584 0.10418
NM_001377.3(DYNC2H1):c.12457-6C>T rs11225812 0.07031
NM_001377.3(DYNC2H1):c.911A>T (p.Gln304Leu) rs12146610 0.04434
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.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.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.7319C>T (p.Thr2440Met) rs146569005 0.00441
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.1484A>C (p.Lys495Thr) rs202233363 0.00255
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840 0.00189
NM_001377.3(DYNC2H1):c.1953+14T>C rs186540831 0.00180
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.3181C>G (p.Leu1061Val) rs200466720 0.00140
NM_001377.3(DYNC2H1):c.8481A>C (p.Thr2827=) rs370627443 0.00129
NM_001377.3(DYNC2H1):c.10048C>T (p.Arg3350Cys) rs149452352 0.00121
NM_001377.3(DYNC2H1):c.12566+17A>G rs187787132 0.00113
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val) rs137853026 0.00105
NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys) rs200190291 0.00090
NM_001377.3(DYNC2H1):c.10845G>A (p.Pro3615=) rs187451323 0.00081
NM_001377.3(DYNC2H1):c.5695G>A (p.Val1899Ile) rs150887098 0.00081
NM_001377.3(DYNC2H1):c.3170G>A (p.Arg1057His) rs191381310 0.00069
NM_001377.3(DYNC2H1):c.1135-11_1135-8del rs551487728 0.00064
NM_001377.3(DYNC2H1):c.476T>C (p.Leu159Ser) rs201510850 0.00064
NM_001377.3(DYNC2H1):c.7708+9A>G rs375081757 0.00063
NM_001377.3(DYNC2H1):c.7143A>G (p.Val2381=) rs79832792 0.00057
NM_001377.3(DYNC2H1):c.1288C>T (p.Arg430Cys) rs374073337 0.00053
NM_001377.3(DYNC2H1):c.33C>T (p.Leu11=) rs373977008 0.00051
NM_001377.3(DYNC2H1):c.12082G>T (p.Gly4028Cys) rs202216852 0.00044
NM_001377.3(DYNC2H1):c.7540+20A>G rs535988847 0.00043
NM_001377.3(DYNC2H1):c.3419G>T (p.Gly1140Val) rs201043335 0.00042
NM_001377.3(DYNC2H1):c.5335-11T>G rs181963253 0.00029
NM_001377.3(DYNC2H1):c.5473A>G (p.Ile1825Val) rs201860217 0.00029
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_001377.3(DYNC2H1):c.2145A>G (p.Gln715=) rs373969189 0.00024
NM_001377.3(DYNC2H1):c.10043-7T>A rs376067770 0.00022
NM_001377.3(DYNC2H1):c.4719A>G (p.Gln1573=) rs201016942 0.00021
NM_001377.3(DYNC2H1):c.2935C>T (p.Arg979Trp) rs772439717 0.00019
NM_001377.3(DYNC2H1):c.6307T>A (p.Ser2103Thr) rs201003494 0.00015
NM_001377.3(DYNC2H1):c.10573C>T (p.Arg3525Ter) rs181011657 0.00014
NM_001377.3(DYNC2H1):c.11726G>A (p.Gly3909Asp) rs201479015 0.00013
NM_001377.3(DYNC2H1):c.5793G>C (p.Leu1931Phe) rs185504536 0.00013
NM_001377.3(DYNC2H1):c.9178A>C (p.Arg3060=) rs200515728 0.00011
NM_001377.3(DYNC2H1):c.7594C>T (p.Arg2532Trp) rs1350329646 0.00004
NM_001377.3(DYNC2H1):c.8218A>G (p.Thr2740Ala) rs768871834 0.00004
NM_001377.3(DYNC2H1):c.9011G>A (p.Arg3004His) rs755871858 0.00004
NM_001377.3(DYNC2H1):c.11270A>G (p.Gln3757Arg) rs758727391 0.00003
NM_001377.3(DYNC2H1):c.6700A>T (p.Thr2234Ser) rs370888884 0.00003
NM_001377.3(DYNC2H1):c.10998A>G (p.Ala3666=) rs758373368 0.00002
NM_001377.3(DYNC2H1):c.2719T>C (p.Cys907Arg) rs534081459 0.00002
NM_001377.3(DYNC2H1):c.4127+10A>G rs369188420 0.00002
NM_001377.3(DYNC2H1):c.12317T>C (p.Leu4106Ser) rs369591902 0.00001
NM_001377.3(DYNC2H1):c.1469G>A (p.Arg490His) rs201484896 0.00001
NM_001377.3(DYNC2H1):c.8361A>C (p.Ser2787=) rs768132660 0.00001
NM_001377.3(DYNC2H1):c.988C>T (p.Arg330Cys) rs397514637 0.00001
NM_001377.3(DYNC2H1):c.10042+7_10042+10del rs1483149779
NM_001377.3(DYNC2H1):c.10606-14A>G rs989023092
NM_001377.3(DYNC2H1):c.12109T>G (p.Ser4037Ala)
NM_001377.3(DYNC2H1):c.2574+1G>A rs1565329461
NM_001377.3(DYNC2H1):c.5930T>C (p.Ile1977Thr) rs2134994345
NM_001377.3(DYNC2H1):c.5959A>G (p.Thr1987Ala) rs137853035
NM_001377.3(DYNC2H1):c.6271A>G (p.Asn2091Asp) rs1555057881
NM_001377.3(DYNC2H1):c.6558C>A (p.Asp2186Glu) rs199675558
NM_001377.3(DYNC2H1):c.7540+14G>A rs115273161
NM_001377.3(DYNC2H1):c.9050T>C (p.Leu3017Pro) rs2135150032
NM_001377.3(DYNC2H1):c.9425C>T (p.Ser3142Leu)
NM_052844.4(DYNC2I2):c.296C>T (p.Pro99Leu) rs2132156076

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