ClinVar Miner

List of variants studied for hennekam lymphangiectasia-lymphedema syndrome 3 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_014243.3(ADAMTS3):c.661+7G>A rs72852050 0.00624
NM_014243.3(ADAMTS3):c.1833C>A (p.Asp611Glu)
NM_014243.3(ADAMTS3):c.2296A>T (p.Asn766Tyr)
NM_014243.3(ADAMTS3):c.3047A>G (p.Asn1016Ser)

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