List of variants reported as pathogenic for disorder of melanin metabolism by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_032383.5(HPS3):c.1163+1G>A	rs201227603	0.00005
NM_000195.5(HPS1):c.517C>T (p.Arg173Ter)	rs538274657	0.00003
NM_032383.5(HPS3):c.1870G>T (p.Glu624Ter)	rs200079039	0.00003
NM_000195.5(HPS1):c.355del (p.His119fs)	rs281865075	0.00002
NM_000195.5(HPS1):c.391C>T (p.Arg131Ter)	rs281865076	0.00001
NM_032383.5(HPS3):c.1838C>G (p.Ser613Ter)	rs755083879	0.00001
NM_032383.5(HPS3):c.2464C>T (p.Arg822Ter)	rs369855073	0.00001
NM_032383.5(HPS3):c.2482-2A>G	rs397507168	0.00001
NM_000195.5(HPS1):c.1189del (p.Gln397fs)	rs281865084
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs)	rs281865163
NM_000195.5(HPS1):c.972del (p.Met325fs)	rs281865082
NM_000195.5(HPS1):c.972dup (p.Met325fs)	rs281865082
NM_032383.5(HPS3):c.2208_2209del (p.Gln737fs)	rs745457191
NM_032383.5(HPS3):c.851_852del (p.Arg284fs)	rs750685598

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