ClinVar Miner

List of variants in gene FIG4 reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_014845.5(FIG4):c.1583+3A>G rs866431185
NM_014845.5(FIG4):c.1948+3A>G rs10499054
NM_014845.5(FIG4):c.2097-10C>G rs142482745
NM_014845.5(FIG4):c.2113A>G (p.Thr705Ala) rs766031746
NM_014845.5(FIG4):c.27C>T (p.Ile9=) rs141040807
NM_014845.5(FIG4):c.309A>C (p.Glu103Asp) rs151070087
NM_014845.5(FIG4):c.627A>G (p.Leu209=) rs140111406
NM_014845.5(FIG4):c.66+10C>T rs200063827
NM_014845.6(FIG4):c.2377-11_2377-10del rs200535694

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