ClinVar Miner

List of variants studied for coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness by OMIM

Included ClinVar conditions (2):

Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
Tietz syndrome; Waardenburg syndrome type 2A; Melanoma, cutaneous malignant, susceptibility to, 8; Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
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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