List of variants in gene TFE3 reported as likely pathogenic for Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_006521.6(TFE3):c.374_379del (p.123AQ[1])	rs2520164693
NM_006521.6(TFE3):c.556C>A (p.Pro186Thr)	rs2520162033
NM_006521.6(TFE3):c.556C>T (p.Pro186Ser)	rs2520162033
NM_006521.6(TFE3):c.560C>T (p.Thr187Met)	rs2064742925
NM_006521.6(TFE3):c.569A>G (p.His190Arg)	rs2147776445

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