ClinVar Miner

List of variants studied for disorder of melanin metabolism by Molecular Genetics, Royal Melbourne Hospital

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_181507.2(HPS5):c.3293C>T (p.Thr1098Ile) rs61884288 0.02435
NM_000372.5(TYR):c.242C>T (p.Pro81Leu) rs28940876 0.00018
NM_000081.4(LYST):c.11268-5del rs36014994

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