ClinVar Miner

List of variants studied for Floating-Harbor syndrome by OMIM

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.6985C>T (p.Arg2329Ter) rs1555465891
NM_006662.3(SRCAP):c.7000C>T (p.Gln2334Ter) rs587777656
NM_006662.3(SRCAP):c.7218dup (p.Gln2407fs) rs2151300039
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter) rs199469465
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter) rs199469464
NM_006662.3(SRCAP):c.7549del (p.Gln2517fs) rs199469466
NM_006662.3(SRCAP):c.7863dup (p.Gln2622fs) rs587776938

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