ClinVar Miner

List of variants in gene combination CDKL5, RS1 reported by Eurofins NTD LLC (GA)

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000330.4(RS1):c.184+3207C>T rs35693326 0.02951
NM_000330.4(RS1):c.184+3118C>T rs139155110 0.00352
NM_000330.4(RS1):c.184+3199G>A rs36022183 0.00345
NM_000330.4(RS1):c.184+3208G>A rs150900695 0.00231
NM_000330.4(RS1):c.234G>A (p.Pro78=) rs183092299 0.00003
NM_000330.4(RS1):c.184+3171C>T rs727503848 0.00002
NM_000330.4(RS1):c.185-3147C>T rs376557374 0.00002
NM_000330.4(RS1):c.326+1089C>A rs886042724 0.00001
NM_000330.4(RS1):c.184+3128G>A rs768289707
NM_000330.4(RS1):c.326+1091C>G rs1569229724

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