ClinVar Miner

List of variants reported as likely pathogenic for Waardenburg syndrome type 2A by Deafness Molecular Diagnostic Center, Chinese PLA General Hospital

Included ClinVar conditions (5):

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

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001354604.2(MITF):c.1198C>T (p.Arg400Ter)	rs1464157509
NM_001354604.2(MITF):c.928A>G (p.Arg310Gly)	rs2066264802

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