List of variants in gene MITF reported as pathogenic for Tietz syndrome; Waardenburg syndrome type 2A; Melanoma, cutaneous malignant, susceptibility to, 8

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: 19

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HGVS	dbSNP	gnomAD frequency
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys)	rs149617956	0.00160
NM_001354604.2(MITF):c.355-1062G>C	rs1236436555	0.00001
NC_000003.11:g.(?_69985874)_(69990502_?)del
NC_000003.11:g.(?_69985874)_(70014399_?)del
NC_000003.11:g.(?_70013978)_(70014399_?)del
NM_001354604.2(MITF):c.1031+1G>A	rs1559749017
NM_001354604.2(MITF):c.1061T>G (p.Leu354Ter)	rs2107537021
NM_001354604.2(MITF):c.1084C>T (p.Arg362Ter)	rs1057517966
NM_001354604.2(MITF):c.1096C>T (p.Arg366Ter)	rs2066482593
NM_001354604.2(MITF):c.1198C>T (p.Arg400Ter)	rs1464157509
NM_001354604.2(MITF):c.1230G>A (p.Thr410=)	rs1057521096
NM_001354604.2(MITF):c.367del (p.Leu123fs)
NM_001354604.2(MITF):c.440T>G (p.Leu147Ter)
NM_001354604.2(MITF):c.643_644dup (p.Ser216fs)
NM_001354604.2(MITF):c.649C>T (p.Arg217Ter)	rs1553702006
NM_001354604.2(MITF):c.709dup (p.Tyr237fs)	rs2065962813
NM_001354604.2(MITF):c.764T>A (p.Leu255Ter)
NM_001354604.2(MITF):c.815del (p.Pro272fs)
NM_001354604.2(MITF):c.956-1G>A	rs1057519327

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