ClinVar Miner

List of variants in gene combination CDKL5, RS1 reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000330.4(RS1):c.184+3484C>A rs33958554 0.66040
NM_000330.4(RS1):c.185-150A>C rs6633107 0.09819
NM_000330.4(RS1):c.522+66A>C rs41309707 0.06999
NM_000330.4(RS1):c.330T>C (p.Cys110=) rs1801161 0.06874
NM_000330.4(RS1):c.184+3207C>T rs35693326 0.02951
NM_000330.4(RS1):c.295A>G (p.Asn99Asp) rs144683916 0.01920
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.326+1082T>C rs375809338 0.00013
NM_000330.4(RS1):c.*146del rs377648180
NM_000330.4(RS1):c.184+2977A>T rs34450419
NM_000330.4(RS1):c.184+2978T>C rs56396491
NM_000330.4(RS1):c.185-149_185-148del rs199718286

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