ClinVar Miner

List of variants reported as pathogenic for Larsen syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) rs28933068
NM_001457.4(FLNB):c.1082G>A (p.Gly361Asp) rs794727854
NM_001457.4(FLNB):c.4756G>A (p.Gly1586Arg) rs80356513
NM_001457.4(FLNB):c.482T>G (p.Phe161Cys) rs80356506
NM_001457.4(FLNB):c.4928C>T (p.Ala1643Val) rs868820857
NM_001457.4(FLNB):c.5071G>A (p.Gly1691Ser) rs80356503
NM_001457.4(FLNB):c.5500G>A (p.Gly1834Arg) rs80356516
NM_001457.4(FLNB):c.679G>A (p.Glu227Lys) rs80356508
NM_004273.5(CHST3):c.1254GAA[1] (p.Lys419del) rs1589510055

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