ClinVar Miner

List of variants in gene FIG4 reported by CeGaT Praxis fuer Humangenetik Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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GRCh37/hg19 6q21(chr6:110113784-110113868)x0
GRCh37/hg19 6q21(chr6:110113784-110113868)x1
NM_014845.5(FIG4):c.122T>C (p.Ile41Thr) rs121908287
NM_014845.5(FIG4):c.1584-8T>A rs199522051
NM_014845.5(FIG4):c.1948+5G>T rs756884619
NM_014845.5(FIG4):c.2154A>G (p.Pro718=) rs201138266
NM_014845.5(FIG4):c.2200G>A (p.Glu734Lys) rs372846619
NM_014845.5(FIG4):c.2467C>T (p.Gln823Ter) rs745790694
NM_014845.5(FIG4):c.2547-5T>G rs200267243
NM_014845.5(FIG4):c.27C>T (p.Ile9=) rs141040807
NM_014845.5(FIG4):c.300G>A (p.Arg100=) rs368831195
NM_014845.5(FIG4):c.535C>T (p.Leu179Phe) rs141116831
NM_014845.5(FIG4):c.548G>A (p.Arg183Gln) rs781588508
NM_014845.5(FIG4):c.759del (p.Phe254fs) rs764717219
NM_014845.5(FIG4):c.863G>T (p.Gly288Val) rs1057519188
NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter) rs377357931
NM_014845.6(FIG4):c.1447C>T (p.Arg483Ter) rs1228223508
NM_014845.6(FIG4):c.218G>A (p.Gly73Glu) rs1583643080
NM_014845.6(FIG4):c.317_321del (p.Tyr106fs) rs1562648414
NM_014845.6(FIG4):c.718del (p.Ser240fs)

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