ClinVar Miner

List of variants in gene DYNC2I2 reported as benign for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_052844.4(DYNC2I2):c.178T>G (p.Trp60Gly) rs4837292 0.99672
NM_052844.4(DYNC2I2):c.309T>C (p.Tyr103=) rs2298045 0.82136
NM_052844.4(DYNC2I2):c.627G>A (p.Gln209=) rs10760570 0.70085
NM_052844.4(DYNC2I2):c.703+20C>T rs78387565 0.03075
NM_052844.4(DYNC2I2):c.187-3C>A rs12380424 0.01873
NM_052844.4(DYNC2I2):c.630G>A (p.Pro210=) rs61744155 0.01761
NM_052844.4(DYNC2I2):c.545+12C>T rs76817280 0.01758
NM_052844.4(DYNC2I2):c.1373-5T>G rs16930544 0.00891
NM_052844.4(DYNC2I2):c.616C>T (p.Arg206Cys) rs148543026 0.00371
NM_052844.4(DYNC2I2):c.65C>T (p.Ala22Val) rs201715229 0.00258
NM_052844.4(DYNC2I2):c.420C>T (p.Thr140=) rs541654387 0.00036
NM_052844.4(DYNC2I2):c.1350T>A (p.Val450=) rs200052239 0.00033
NM_052844.4(DYNC2I2):c.1425G>C (p.Leu475Phe) rs200702768 0.00028
NM_052844.4(DYNC2I2):c.477G>A (p.Ala159=) rs186228177 0.00009
NM_052844.4(DYNC2I2):c.1326C>T (p.Arg442=) rs201202295 0.00003
NM_052844.4(DYNC2I2):c.1214+16_1214+22del rs548912505
NM_052844.4(DYNC2I2):c.1551G>A (p.Thr517=) rs148693978

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