ClinVar Miner

List of variants studied for Floating-Harbor syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_006662.3(SRCAP):c.5598_5600del (p.Phe1867del) rs565950672 0.00039
NM_006662.3(SRCAP):c.*243C>T rs577624873 0.00010
NM_006662.3(SRCAP):c.*342del rs886051909
NM_006662.3(SRCAP):c.*358del rs397854666
NM_006662.3(SRCAP):c.2300+10dup rs557150142
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter) rs199469465
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter) rs199469464

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