ClinVar Miner

List of variants in gene DYNC2LI1 reported as pathogenic for bone disorder

Included ClinVar conditions (1346):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_016008.4(DYNC2LI1):c.349C>G (p.Leu117Val) rs201948500 0.00005
NM_016008.4(DYNC2LI1):c.659C>T (p.Thr220Ile) rs886037860 0.00004
NM_016008.4(DYNC2LI1):c.619C>T (p.Arg207Ter) rs745930390 0.00003
NM_016008.4(DYNC2LI1):c.2T>C (p.Met1Thr) rs200859699 0.00001
NM_016008.4(DYNC2LI1):c.372G>A (p.Trp124Ter) rs769975073 0.00001
NM_016008.4(DYNC2LI1):c.993+1G>A rs374356079 0.00001
NM_016008.4(DYNC2LI1):c.123_124insA (p.Gly42fs) rs1553359373
NM_016008.4(DYNC2LI1):c.18_19del (p.Trp7fs) rs1435689952
NM_016008.4(DYNC2LI1):c.420del (p.Lys140_Val141insTer) rs770155116
NM_016008.4(DYNC2LI1):c.655-9del rs752971070
NM_016008.4(DYNC2LI1):c.993+3A>G rs879255656

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