ClinVar Miner

List of variants in gene FIG4 reported by Centre for Mendelian Genomics,University Medical Centre Ljubljana

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Total variants: 7
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HGVS dbSNP
NM_014845.5(FIG4):c.122T>C (p.Ile41Thr) rs121908287
NM_014845.5(FIG4):c.2095C>T (p.Arg699Cys) rs764799053
NM_014845.5(FIG4):c.2096G>A (p.Arg699His) rs750091928
NM_014845.5(FIG4):c.2467C>T (p.Gln823Ter) rs745790694
NM_014845.5(FIG4):c.294del (p.Phe98fs) rs1562648373
NM_014845.6(FIG4):c.1751-16A>G
NM_014845.6(FIG4):c.2018T>A (p.Ile673Asn)

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