List of variants in gene MITF reported as uncertain significance by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_001354604.2(MITF):c.881-7T>A	rs200580325	0.00041
NM_001354604.2(MITF):c.1412A>T (p.Tyr471Phe)	rs145325518	0.00022
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.666+5T>C	rs374067688	0.00004
NM_001354604.2(MITF):c.1179+4C>T	rs749869303	0.00003
NM_001354604.2(MITF):c.881-9C>G	rs766938558	0.00003
NM_001354604.2(MITF):c.217C>T (p.Arg73Cys)	rs1478130504	0.00002
NM_001354604.2(MITF):c.1108C>G (p.Arg370Gly)	rs372113245	0.00001
NM_001354604.2(MITF):c.355-8A>G	rs876657867	0.00001
NM_001354604.2(MITF):c.590A>G (p.Tyr197Cys)	rs763827931	0.00001
NM_001354604.2(MITF):c.1040G>A (p.Arg347His)	rs1195515853
NM_001354604.2(MITF):c.105-12789C>T	rs761597919
NM_001354604.2(MITF):c.1072G>A (p.Val358Met)	rs1271000541
NM_001354604.2(MITF):c.1202C>T (p.Ala401Val)	rs1553706163
NM_001354604.2(MITF):c.452A>C (p.His151Pro)	rs1576004813
NM_001354604.2(MITF):c.639C>G (p.Asn213Lys)	rs137944487

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