List of variants in gene MITF reported by Center for Human Genetics, Inc, Center for Human Genetics, Inc

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001354604.2(MITF):c.669G>A (p.Met223Ile)	rs1032758072	0.00003
NM_001354604.2(MITF):c.997G>A (p.Glu333Lys)	rs147682682	0.00001
NM_001354604.2(MITF):c.1031+4A>C	rs1553704850
NM_001354604.2(MITF):c.1072G>A (p.Val358Met)	rs1271000541
NM_001354604.2(MITF):c.1084C>T (p.Arg362Ter)	rs1057517966
NM_001354604.2(MITF):c.649C>T (p.Arg217Ter)	rs1553702006
NM_001354604.2(MITF):c.730_731delinsCC (p.Leu244Pro)	rs1553702406
NM_001354604.2(MITF):c.953T>C (p.Leu318Pro)	rs1553704097
NM_001354604.2(MITF):c.964AGA[2] (p.Arg324del)	rs1553704814
NM_001354604.2(MITF):c.989G>A (p.Arg330His)	rs763119975

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