ClinVar Miner

List of variants reported as uncertain significance for Jackson-Weiss syndrome

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000141.5(FGFR2):c.*736dup	rs886046762	0.00005
NM_000141.5(FGFR2):c.110-22TC[3]	rs773932794
NM_023110.3(FGFR1):c.2327del (p.Tyr776fs)
NM_023110.3(FGFR1):c.391G>A (p.Asp131Asn)	rs1821566729

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