ClinVar Miner

List of variants reported as benign for short-rib thoracic dysplasia 11 with or without polydactyly

Included ClinVar conditions (1):
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Total variants: 24
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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.873C>T (p.Thr291=) rs4837291 0.72271
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.888A>G (p.Leu296=) rs140034879 0.00761
NM_052844.4(DYNC2I2):c.957G>A (p.Leu319=) rs75450756 0.00524
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.1066G>A (p.Gly356Ser) rs17849504 0.00244
NM_052844.4(DYNC2I2):c.1008C>T (p.Gly336=) rs146077746 0.00117
NM_052844.4(DYNC2I2):c.1116G>A (p.Thr372=) rs138690108 0.00088
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.738C>T (p.Asp246=) rs200687172 0.00004
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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