ClinVar Miner

List of variants studied for alopecia-intellectual disability syndrome 4 by Genome-Nilou Lab

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_002340.6(LSS):c.1924T>G (p.Leu642Val) rs2254524 0.72214
NM_002340.6(LSS):c.784-6C>T rs11701729 0.56553
NM_002340.6(LSS):c.551-6G>C rs2277826 0.53664
NM_002340.6(LSS):c.864G>C (p.Pro288=) rs9980968 0.38541
NM_002340.6(LSS):c.181-16_181-15del rs10550493
NM_002340.6(LSS):c.429-1G>A rs2123758710

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