List of variants in gene FIG4 reported as likely pathogenic for not provided

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_014845.6(FIG4):c.877-2A>C	rs143956557	0.00002
NM_014845.6(FIG4):c.1447C>T (p.Arg483Ter)	rs1228223508	0.00001
NM_014845.6(FIG4):c.1448G>A (p.Arg483Gln)	rs749233172	0.00001
NM_014845.6(FIG4):c.1949-10T>G	rs896444437	0.00001
NM_014845.6(FIG4):c.2467C>T (p.Gln823Ter)	rs745790694	0.00001
NM_014845.6(FIG4):c.2547-1G>A	rs769858739	0.00001
GRCh37/hg19 6q21(chr6:110113784-110113868)x0
GRCh37/hg19 6q21(chr6:110113784-110113868)x1
NM_014845.6(FIG4):c.1239_1241inv (p.Tyr413_Ile414delinsTer)
NM_014845.6(FIG4):c.1331del (p.Thr444fs)	rs1583697607
NM_014845.6(FIG4):c.1584-1G>T
NM_014845.6(FIG4):c.1750+1del	rs764770160
NM_014845.6(FIG4):c.1889+1G>T
NM_014845.6(FIG4):c.1970_1973del (p.Lys657fs)
NM_014845.6(FIG4):c.2386C>T (p.Gln796Ter)	rs1554309093
NM_014845.6(FIG4):c.317_321del (p.Tyr106fs)	rs1562648414
NM_014845.6(FIG4):c.454C>T (p.Arg152Ter)	rs1175493477
NM_014845.6(FIG4):c.773C>G (p.Ser258Ter)
NM_014845.6(FIG4):c.837dup (p.Ala280fs)

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