ClinVar Miner

List of variants reported as uncertain significance for Atypical Rett syndrome by RettBASE

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_003159.2(CDKL5):c.-440G>T rs777401314 0.00040
NM_000330.4(RS1):c.185-3188G>A rs267608665 0.00002
NM_001323289.2(CDKL5):c.1196A>C (p.Asn399Thr) rs267608611 0.00001
NM_000330.4(RS1):c.326+1231G>A rs786204995
NM_001323289.2(CDKL5):c.-189C>T rs786204994
NM_001323289.2(CDKL5):c.1266C>A (p.Asp422Glu) rs762708691

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