ClinVar Miner

List of variants in gene combination CDKL5, RS1 reported as uncertain significance for not specified

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000330.4(RS1):c.185-3213A>C rs143243059 0.00009
NM_000330.4(RS1):c.326+1131G>A rs267608664 0.00004
NM_000330.4(RS1):c.522+5G>A rs200074383 0.00004
NM_000330.4(RS1):c.185-3188G>A rs267608665 0.00002
NM_000330.4(RS1):c.185-3137C>A rs767312604 0.00001
NM_000330.4(RS1):c.554C>T (p.Thr185Met) rs61753173 0.00001
NM_000330.4(RS1):c.184+3094G>A rs267608394
NM_000330.4(RS1):c.185-3221G>A rs374054249
NM_000330.4(RS1):c.404G>C (p.Gly135Ala)
NM_000330.4(RS1):c.527T>C (p.Phe176Ser)
NM_000330.4(RS1):c.543_544delinsAG (p.Asp181_Arg182delinsGluGly) rs1555957020

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