ClinVar Miner

List of variants reported as likely benign for Boomerang dysplasia

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001457.4(FLNB):c.292+8C>A rs9831243 0.01775
NM_001457.4(FLNB):c.6017A>G (p.Lys2006Arg) rs62621996 0.00994
NM_001457.4(FLNB):c.1919C>T (p.Thr640Met) rs62621999 0.00943
NM_001457.4(FLNB):c.5426-10G>A rs183917041 0.00264
NM_001457.4(FLNB):c.3583G>A (p.Val1195Met) rs200993986 0.00021
NM_001457.4(FLNB):c.5407A>T (p.Met1803Leu) rs200677473 0.00021
NM_001457.4(FLNB):c.4986C>T (p.Ala1662=) rs200905679 0.00017
NM_001457.4(FLNB):c.1693G>A (p.Gly565Arg) rs754869116 0.00006

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