List of variants in gene FBLN5 studied for Charcot-Marie-Tooth disease

Minimum submission review status:		Collection method:
Minimum conflict level:
Gene type:		Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

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HGVS	dbSNP
NM_006329.3(FBLN5):c.1051C>T (p.Arg351Trp)	rs28939073
NM_006329.3(FBLN5):c.1087G>A (p.Ala363Thr)	rs121434302
NM_006329.3(FBLN5):c.1117C>T (p.Arg373Cys)	rs864309526
NM_006329.3(FBLN5):c.1183C>T (p.Arg395Trp)	rs372650987
NM_006329.3(FBLN5):c.1201_1202del (p.Ser401fs)
NM_006329.3(FBLN5):c.1235G>A (p.Gly412Glu)	rs121434303
NM_006329.3(FBLN5):c.178G>C (p.Val60Leu)	rs121434299
NM_006329.3(FBLN5):c.212G>A (p.Arg71Gln)	rs121434300
NM_006329.3(FBLN5):c.259C>T (p.Pro87Ser)	rs121434301
NM_006329.3(FBLN5):c.268G>A (p.Gly90Ser)	rs144288844
NM_006329.3(FBLN5):c.376G>A (p.Val126Met)	rs61734479
NM_006329.3(FBLN5):c.506T>C (p.Ile169Thr)	rs28939072

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