ClinVar Miner

List of variants in gene FIG4 reported as likely pathogenic

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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP
GRCh37/hg19 6q21(chr6:110113784-110113868)x0
GRCh37/hg19 6q21(chr6:110113784-110113868)x1
NM_014845.5(FIG4):c.1239_1241inv (p.Tyr413_Ile414delinsTer)
NM_014845.5(FIG4):c.1666dup (p.Thr556fs) rs772320287
NM_014845.5(FIG4):c.1940A>G (p.Tyr647Cys) rs150301327
NM_014845.5(FIG4):c.2459+1G>A rs747768373
NM_014845.5(FIG4):c.2467C>T (p.Gln823Ter) rs745790694
NM_014845.5(FIG4):c.498-2A>G rs1554300952
NM_014845.5(FIG4):c.547C>T (p.Arg183Ter) rs121908288
NM_014845.5(FIG4):c.737G>A (p.Trp246Ter) rs776005417
NM_014845.6(FIG4):c.1331del (p.Thr444fs) rs1583697607
NM_014845.6(FIG4):c.1447C>T (p.Arg483Ter) rs1228223508
NM_014845.6(FIG4):c.1475G>C (p.Arg492Pro)
NM_014845.6(FIG4):c.1749_1750+7del
NM_014845.6(FIG4):c.1890-2A>G
NM_014845.6(FIG4):c.2432C>G (p.Ser811Ter)
NM_014845.6(FIG4):c.2433AGA[2] (p.Glu813del) rs876661144
NM_014845.6(FIG4):c.317_321del (p.Tyr106fs) rs1562648414
NM_014845.6(FIG4):c.447-2A>C
NM_014845.6(FIG4):c.691A>G (p.Asn231Asp)

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