ClinVar Miner

List of variants studied for disorder of melanin metabolism by Johns Hopkins Genomics, Johns Hopkins University

Included ClinVar conditions (48):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_022081.6(HPS4):c.751A>T (p.Thr251Ser) rs34962745 0.00699
NM_003664.5(AP3B1):c.2661C>A (p.Phe887Leu) rs139344924 0.00669
NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala) rs115330112 0.00485
NM_003664.5(AP3B1):c.2880C>T (p.Ala960=) rs62001052 0.00398
NM_022081.6(HPS4):c.250A>G (p.Ile84Val) rs149830675 0.00306
NM_003664.5(AP3B1):c.1857T>G (p.Leu619=) rs115892142 0.00200
NM_000195.5(HPS1):c.198G>A (p.Ser66=) rs115265574 0.00111
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) rs61745150 0.00086
NM_022081.6(HPS4):c.593G>A (p.Gly198Glu) rs199965734 0.00058
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388 0.00051
NM_000195.5(HPS1):c.391C>T (p.Arg131Ter) rs281865076 0.00001
NM_000081.4(LYST):c.1540C>T (p.Arg514Ter) rs80338645
NM_000081.4(LYST):c.2413del (p.Glu805fs) rs80338647
NM_000195.5(HPS1):c.54A>G (p.Thr18=) rs531947687
NM_000275.3(OCA2):c.131del (p.Gly44fs) rs780625433
NM_000275.3(OCA2):c.374_375del (p.Glu125fs)
NM_000372.5(TYR):c.[1205G>A;575C>A]
NM_003664.5(AP3B1):c.3020CTG[1] (p.Ala1008del) rs111935323
NM_022081.6(HPS4):c.1060_1061delinsAG (p.Ser354=) rs386820399
NM_022081.6(HPS4):c.1670C>G (p.Ala557Gly)

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