List of variants reported as likely pathogenic for disorder of melanin metabolism by Revvity Omics, Revvity

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_032383.5(HPS3):c.1189C>T (p.Arg397Trp)	rs121908316	0.00001
NM_032383.5(HPS3):c.2589+2T>C	rs1411572278	0.00001
NM_000081.4(LYST):c.2437del (p.Arg813fs)
NM_000081.4(LYST):c.3202C>T (p.Gln1068Ter)
NM_000195.5(HPS1):c.1857+1G>A	rs2136102397
NM_000195.5(HPS1):c.437G>A (p.Trp146Ter)
NM_000195.5(HPS1):c.9C>A (p.Cys3Ter)	rs750909242
NM_003664.5(AP3B1):c.280-2A>G
NM_024101.7(MLPH):c.332+1G>T	rs2106291953
NM_024747.6(HPS6):c.1136C>A (p.Ser379Ter)
NM_024747.6(HPS6):c.1789del (p.Ala597fs)
NM_032383.5(HPS3):c.1190_1194dup (p.Ser399fs)	rs1309602954
NM_032383.5(HPS3):c.1509+1G>A	rs746906314
NM_032383.5(HPS3):c.1778G>A (p.Trp593Ter)	rs1723609962
NM_032383.5(HPS3):c.2739_2742del (p.Glu913fs)	rs1277509410

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