List of variants in gene MITF reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_001354604.2(MITF):c.329C>T (p.Thr110Met)	rs190215588	0.00019
NM_001354604.2(MITF):c.394C>A (p.Gln132Lys)	rs201297175	0.00019
NM_001354604.2(MITF):c.1061T>C (p.Leu354Ser)	rs2107537021
NM_001354604.2(MITF):c.1150G>A (p.Ala384Thr)	rs202020443
NM_001354604.2(MITF):c.1331G>T (p.Cys444Phe)
NM_001354604.2(MITF):c.1477G>A (p.Val493Ile)	rs756044021
NM_001354604.2(MITF):c.1531AGC[1] (p.Ser512del)	rs1576071470
NM_001354604.2(MITF):c.639C>T (p.Asn213=)	rs137944487
NM_001354604.2(MITF):c.989G>T (p.Arg330Leu)	rs763119975

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