ClinVar Miner

List of variants in gene MITF studied for coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 12
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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.1159C>T (p.His387Tyr) rs140374965 0.00005
NM_001354604.2(MITF):c.1229C>T (p.Thr410Met) rs369552358 0.00005
NM_001354604.2(MITF):c.1259G>A (p.Arg420Gln) rs201351378 0.00003
NM_001354604.2(MITF):c.881-9C>G rs766938558 0.00003
NM_001354604.2(MITF):c.726G>C (p.Leu242Phe) rs200287806 0.00002
NM_001354604.2(MITF):c.1031C>T (p.Pro344Leu) rs756923654 0.00001
NM_001354604.2(MITF):c.622G>A (p.Glu208Lys) rs768503905 0.00001
NM_001354604.2(MITF):c.939G>C (p.Lys313Asn) rs1057519325
NM_001354604.2(MITF):c.956-1G>A rs1057519327
NM_001354604.2(MITF):c.964AGA[2] (p.Arg324del) rs1553704814
NM_001354604.2(MITF):c.970A>G (p.Arg324Gly) rs1057519326

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