List of variants in gene TFE3 reported as pathogenic by OMIM

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_006521.6(TFE3):c.350G>A (p.Arg117Gln)	rs2147777346
NM_006521.6(TFE3):c.356A>C (p.Gln119Pro)	rs2147777343
NM_006521.6(TFE3):c.557C>T (p.Pro186Leu)	rs2520162018
NM_006521.6(TFE3):c.560C>G (p.Thr187Arg)	rs2064742925
NM_006521.6(TFE3):c.560C>T (p.Thr187Met)	rs2064742925
NM_006521.6(TFE3):c.602A>C (p.Gln201Pro)	rs2147776381
NM_006521.6(TFE3):c.780+1G>A	rs2147776168

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