ClinVar Miner

List of variants studied for filamin-related bone disorder by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu) rs28935473
NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu) rs28935469
NM_001110556.2(FLNA):c.733G>A (p.Glu245Lys) rs797044753
NM_001457.4(FLNB):c.1147G>A (p.Gly383Arg)
NM_001457.4(FLNB):c.1592dup (p.His532fs) rs746105983
NM_001457.4(FLNB):c.4861+2T>G
NM_145331.3(MAP3K7):c.631G>A (p.Asp211Asn)

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