ClinVar Miner

List of variants in gene HOXA11, LOC107126281 studied for Radioulnar synostosis with amegakaryocytic thrombocytopenia 1

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_005523.6(HOXA11):c.396G>C (p.Arg132Ser) rs143812636 0.00052
NM_005523.6(HOXA11):c.152T>A (p.Leu51Gln) rs150569316 0.00023
NM_005523.6(HOXA11):c.10G>C (p.Asp4His) rs752525999 0.00001
NM_005523.6(HOXA11):c.328A>C (p.Ser110Arg)
NM_005523.6(HOXA11):c.380A>G (p.Tyr127Cys)
NM_005523.6(HOXA11):c.451C>A (p.Pro151Thr) rs1783832681
NM_005523.6(HOXA11):c.531GGC[7] (p.Ala183_Thr184insAlaAla)

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