List of variants in gene MITF reported as pathogenic for obsolete rare genetic deafness

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_001354604.2(MITF):c.1043G>A (p.Trp348Ter)	rs876657698
NM_001354604.2(MITF):c.1129C>T (p.Arg377Ter)	rs876657699
NM_001354604.2(MITF):c.704C>G (p.Ser235Ter)	rs876657700
NM_001354604.2(MITF):c.773_785dup (p.Asp263fs)	rs1553703619
NM_198159.2(MITF):c.(?_938)-102_*(78_?)del

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