ClinVar Miner

List of variants studied for asphyxiating thoracic dystrophy 5 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_025132.4(WDR19):c.*229C>T rs7564 0.52060
NM_025132.4(WDR19):c.891C>T (p.Cys297=) rs2167494 0.30055
NM_025132.4(WDR19):c.852A>G (p.Ser284=) rs17584431 0.11533
NM_025132.4(WDR19):c.-9A>G rs60800612 0.05032
NM_025132.4(WDR19):c.910G>A (p.Val304Ile) rs75964850 0.03961
NM_025132.4(WDR19):c.3250G>A (p.Gly1084Ser) rs16995209 0.03548
NM_025132.4(WDR19):c.1357-10T>C rs16995189 0.01827
NM_025132.4(WDR19):c.1607G>C (p.Ser536Thr) rs115348383 0.00917
NM_025132.4(WDR19):c.2096G>A (p.Arg699Gln) rs138529452 0.00883
NM_025132.4(WDR19):c.1581C>A (p.Thr527=) rs114689848 0.00847
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser) rs187546086 0.00275
NM_025132.4(WDR19):c.-15G>T rs150860929 0.00252
NM_025132.4(WDR19):c.3183+9G>A rs138318063 0.00248
NM_025132.4(WDR19):c.2142+12G>A rs149621476 0.00246
NM_025132.4(WDR19):c.2361C>T (p.Phe787=) rs200133722 0.00165
NM_025132.4(WDR19):c.3667C>T (p.Arg1223Cys) rs201597047 0.00150
NM_025132.4(WDR19):c.2386G>A (p.Ala796Thr) rs187332731 0.00101
NM_025132.4(WDR19):c.1198C>T (p.Leu400=) rs199765304 0.00079
NM_025132.4(WDR19):c.3416A>G (p.Gln1139Arg) rs75621037 0.00065
NM_025132.4(WDR19):c.2608G>A (p.Asp870Asn) rs201963605 0.00064
NM_025132.4(WDR19):c.3008A>G (p.Glu1003Gly) rs201354264 0.00056
NM_025132.4(WDR19):c.3918-6A>C rs199546190 0.00053
NM_025132.4(WDR19):c.490G>A (p.Val164Ile) rs199514431 0.00051
NM_025132.4(WDR19):c.*106T>G rs147600266 0.00043
NM_025132.4(WDR19):c.13+15G>A rs150633358 0.00041
NM_025132.4(WDR19):c.*152G>A rs533059483 0.00039
NM_025132.4(WDR19):c.3249T>C (p.Asp1083=) rs371128500 0.00034
NM_025132.4(WDR19):c.2239A>G (p.Ile747Val) rs144335584 0.00031
NM_025132.4(WDR19):c.929A>G (p.Tyr310Cys) rs199783864 0.00030
NM_025132.4(WDR19):c.1566C>T (p.Pro522=) rs200692490 0.00029
NM_025132.4(WDR19):c.3484-15T>C rs376870184 0.00024
NM_025132.4(WDR19):c.1595T>C (p.Ile532Thr) rs749672769 0.00019
NM_025132.4(WDR19):c.3016A>G (p.Thr1006Ala) rs199678654 0.00019
NM_025132.4(WDR19):c.2329A>G (p.Ile777Val) rs373737104 0.00013
NM_025132.4(WDR19):c.3483+5G>A rs201216969 0.00013
NM_025132.4(WDR19):c.3027C>T (p.Asp1009=) rs181975379 0.00011
NM_025132.4(WDR19):c.3683C>G (p.Ala1228Gly) rs201051877 0.00011
NM_025132.4(WDR19):c.6+5A>G rs201198839 0.00011
NM_025132.4(WDR19):c.689A>C (p.Asp230Ala) rs202232525 0.00011
NM_025132.4(WDR19):c.1064A>T (p.Asp355Val) rs192495145 0.00010
NM_025132.4(WDR19):c.1775A>G (p.Gln592Arg) rs190192706 0.00010
NM_025132.4(WDR19):c.2364-15T>C rs771036360 0.00009
NM_025132.4(WDR19):c.1357-7G>A rs377101599 0.00008
NM_025132.4(WDR19):c.3436G>A (p.Glu1146Lys) rs779635441 0.00008
NM_025132.4(WDR19):c.1839A>G (p.Leu613=) rs201320006 0.00007
NM_025132.4(WDR19):c.479A>G (p.Lys160Arg) rs756321262 0.00007
NM_025132.4(WDR19):c.1639G>A (p.Ala547Thr) rs754631759 0.00006
NM_025132.4(WDR19):c.1173C>T (p.Asn391=) rs777985189 0.00005
NM_025132.4(WDR19):c.1390C>T (p.Arg464Cys) rs201148758 0.00004
NM_025132.4(WDR19):c.2577G>A (p.Ala859=) rs753596825 0.00004
NM_025132.4(WDR19):c.*131C>T rs886059404 0.00003
NM_025132.4(WDR19):c.2087G>A (p.Arg696His) rs747881116 0.00003
NM_025132.4(WDR19):c.3283T>C (p.Leu1095=) rs769329045 0.00003
NM_025132.4(WDR19):c.3722C>T (p.Pro1241Leu) rs576113399 0.00003
NM_025132.4(WDR19):c.523-3T>C rs747603843 0.00003
NM_025132.4(WDR19):c.778C>T (p.His260Tyr) rs754678482 0.00003
NM_025132.4(WDR19):c.*296T>G rs542204770 0.00002
NM_025132.4(WDR19):c.128G>A (p.Arg43His) rs770312522 0.00002
NM_025132.4(WDR19):c.13+14C>T rs758352852 0.00002
NM_025132.4(WDR19):c.3042C>T (p.Ala1014=) rs761990492 0.00002
NM_025132.4(WDR19):c.3483+11T>C rs766475725 0.00002
NM_025132.4(WDR19):c.822T>C (p.His274=) rs750215526 0.00002
NM_025132.4(WDR19):c.1932G>A (p.Thr644=) rs886059398 0.00001
NM_025132.4(WDR19):c.1960G>A (p.Ala654Thr) rs1024499799 0.00001
NM_025132.4(WDR19):c.3068A>C (p.Tyr1023Ser) rs759424617 0.00001
NM_025132.4(WDR19):c.935T>C (p.Ile312Thr) rs886059396 0.00001
NM_025132.4(WDR19):c.*124T>G rs1737119800
NM_025132.4(WDR19):c.*184T>G rs886059405
NM_025132.4(WDR19):c.*83G>C rs111976533
NM_025132.4(WDR19):c.1293C>T (p.Ala431=) rs886059397
NM_025132.4(WDR19):c.171T>C (p.Cys57=) rs1483597668
NM_025132.4(WDR19):c.1775A>T (p.Gln592Leu) rs190192706
NM_025132.4(WDR19):c.198A>T (p.Gly66=) rs749815295
NM_025132.4(WDR19):c.2218T>C (p.Tyr740His) rs886059399
NM_025132.4(WDR19):c.2251G>A (p.Glu751Lys) rs1730954326
NM_025132.4(WDR19):c.2429A>G (p.Asp810Gly) rs886059400
NM_025132.4(WDR19):c.2430T>G (p.Asp810Glu) rs1375996391
NM_025132.4(WDR19):c.2782A>T (p.Ile928Phe) rs780963454
NM_025132.4(WDR19):c.2872G>C (p.Ala958Pro) rs1057523257
NM_025132.4(WDR19):c.3358+15C>T rs750722358
NM_025132.4(WDR19):c.3439A>G (p.Met1147Val) rs886059401
NM_025132.4(WDR19):c.3602G>A (p.Cys1201Tyr) rs886059402
NM_025132.4(WDR19):c.3775C>A (p.Leu1259Ile) rs886059403
NM_025132.4(WDR19):c.750A>T (p.Ser250=) rs886059395

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