ClinVar Miner

List of variants studied for asphyxiating thoracic dystrophy 3 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001377.3(DYNC2H1):c.10461A>G (p.Gln3487=) rs75143468 0.01568
NM_001377.3(DYNC2H1):c.6478-6C>T rs114254215 0.01103
NM_052844.4(DYNC2I2):c.1066G>A (p.Gly356Ser) rs17849504 0.00244
NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys) rs200190291 0.00090
NM_020779.4(WDR35):c.2149A>G (p.Ile717Val) rs144493712 0.00089
NM_001377.3(DYNC2H1):c.11905G>A (p.Val3969Ile) rs189100009 0.00087
NM_001377.3(DYNC2H1):c.5695G>A (p.Val1899Ile) rs150887098 0.00081
NM_001377.3(DYNC2H1):c.4073G>A (p.Arg1358His) rs184256941 0.00078
NM_001377.3(DYNC2H1):c.3665G>A (p.Gly1222Glu) rs201194631 0.00034
NM_001377.3(DYNC2H1):c.7719C>T (p.Tyr2573=) rs373903792 0.00018
NM_001377.3(DYNC2H1):c.5983G>A (p.Ala1995Thr) rs552436294 0.00011
NM_001377.3(DYNC2H1):c.7794A>G (p.Pro2598=) rs781691287 0.00008
NM_001377.3(DYNC2H1):c.4762+20T>C rs750684131 0.00006
NM_001377.3(DYNC2H1):c.2422G>A (p.Gly808Ser) rs372055203 0.00005
NM_001377.3(DYNC2H1):c.3746A>T (p.Asp1249Val) rs371037205 0.00003
NM_020779.4(WDR35):c.1435A>G (p.Met479Val) rs797046099 0.00002
NM_052844.4(DYNC2I2):c.1174G>A (p.Gly392Ser) rs140484655 0.00002
NM_001377.3(DYNC2H1):c.9842T>C (p.Ile3281Thr) rs1204094235 0.00001
NM_020779.4(WDR35):c.1930C>G (p.Pro644Ala) rs758919526 0.00001
NM_001377.3(DYNC2H1):c.11382+18_11382+19insGGT rs3834451
NM_001377.3(DYNC2H1):c.7540+14G>A rs115273161
NM_020779.4(WDR35):c.2129G>T (p.Arg710Leu) rs370797645
NM_052844.4(DYNC2I2):c.1312_1313del (p.Leu438fs) rs753802842

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