ClinVar Miner

List of variants studied for disorder of melanin metabolism by Department of Pathology and Laboratory Medicine, Sinai Health System

Included ClinVar conditions (48):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_024747.6(HPS6):c.206_210dup (p.Trp71fs) rs2136333791

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