ClinVar Miner

List of variants in gene KIAA0586 studied for Short-rib thoracic dysplasia 14 with polydactyly

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001329943.3(KIAA0586):c.1119G>A (p.Ser373=) rs1748971 0.99666
NM_001329943.3(KIAA0586):c.3166C>G (p.Pro1056Ala) rs1617510 0.97670
NM_001329943.3(KIAA0586):c.1254-25G>A rs1743721 0.97577
NM_001329943.3(KIAA0586):c.2254+25A>G rs1743716 0.97575
NM_001329943.3(KIAA0586):c.2528T>C (p.Leu843Pro) rs1748986 0.97574
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_001329943.3(KIAA0586):c.1656G>A (p.Gln552=) rs762081862 0.00001
NM_001329943.3(KIAA0586):c.4324-1G>A rs753649082 0.00001
NM_001329943.3(KIAA0586):c.1233G>T (p.Trp411Cys) rs548318176
NM_001329943.3(KIAA0586):c.194C>G (p.Ser65Ter) rs797045119
NM_001329943.3(KIAA0586):c.3305-8dup rs5808973
NM_001329943.3(KIAA0586):c.38dup (p.Ile14fs) rs745949846

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