ClinVar Miner

List of variants reported as uncertain significance for asphyxiating thoracic dystrophy 3 by Baylor Genetics

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840 0.00189
NM_001377.3(DYNC2H1):c.5047C>T (p.Leu1683Phe) rs201563576 0.00172
NM_001377.3(DYNC2H1):c.5798A>G (p.Glu1933Gly) rs201829296 0.00076
NM_001377.3(DYNC2H1):c.5473A>G (p.Ile1825Val) rs201860217 0.00029
NM_001377.3(DYNC2H1):c.11048C>T (p.Pro3683Leu) rs1297881996 0.00001
NM_001377.3(DYNC2H1):c.12581C>T (p.Ser4194Phe) rs886042136
NM_001377.3(DYNC2H1):c.4231T>C (p.Cys1411Arg) rs1860951602
NM_001377.3(DYNC2H1):c.4360C>A (p.Leu1454Met)
NM_001377.3(DYNC2H1):c.61T>G (p.Phe21Val) rs1858012761
NM_001377.3(DYNC2H1):c.970C>T (p.Leu324Phe) rs1858493502
NM_020779.4(WDR35):c.1301C>T (p.Ser434Leu) rs368497711
NM_052844.4(DYNC2I2):c.1171C>G (p.His391Asp) rs537004785

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