List of variants in gene combination GH-LCR, SCN4A reported as uncertain significance by Gharavi Laboratory, Columbia University

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000334.4(SCN4A):c.3936G>C (p.Met1312Ile)	rs1567817375	0.00001
NM_000334.4(SCN4A):c.4379G>A (p.Arg1460Gln)	rs1210934866	0.00001
NM_000334.4(SCN4A):c.2254C>T (p.Leu752Phe)	rs1567823019
NM_000334.4(SCN4A):c.3992C>T (p.Pro1331Leu)	rs1567817335
NM_000334.4(SCN4A):c.4784C>T (p.Ala1595Val)	rs1567816203
NM_000334.4(SCN4A):c.5188T>C (p.Cys1730Arg)	rs1567815888

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