ClinVar Miner

List of variants studied for disorder of melanin metabolism by Genetics and Molecular Pathology, SA Pathology

Included ClinVar conditions (48):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_003664.5(AP3B1):c.2915A>G (p.Asn972Ser) rs139968311 0.00213
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388 0.00051
NM_024747.6(HPS6):c.1951C>T (p.Arg651Trp) rs376165374 0.00016
NM_000372.5(TYR):c.1A>G (p.Met1Val) rs28940881 0.00006
NM_000195.5(HPS1):c.1857+2T>C rs374689398 0.00002
NM_000372.5(TYR):c.1493del (p.Leu498fs) rs763648121
NM_024747.6(HPS6):c.1267C>T (p.Pro423Ser)
NM_024747.6(HPS6):c.1274A>T (p.Glu425Val)
NM_032122.5(DTNBP1):c.872T>G (p.Leu291Ter) rs2127784434

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