ClinVar Miner

List of variants studied for disorder of melanin metabolism by Institute of Human Genetics, University of Goettingen

Included ClinVar conditions (48):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.1101C>A (p.His367Gln) rs139091458 0.00001
NM_000550.3(TYRP1):c.554A>G (p.Tyr185Cys)
NM_000550.3(TYRP1):c.643C>G (p.His215Asp) rs1160525621

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