ClinVar Miner

List of variants in gene combination CP, HPS3 reported as benign for Hermansky-Pudlak syndrome 3

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Total variants: 9
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HGVS dbSNP
NM_000096.4(CP):c.*1157C>T rs11537809
NM_000096.4(CP):c.*474T>C
NM_000096.4(CP):c.*509A>C rs13098532
NM_000096.4(CP):c.*768T>C rs35805816
NM_000096.4(CP):c.*769G>A rs1053669
NM_032383.5(HPS3):c.*128A>G rs73019023
NM_032383.5(HPS3):c.*172G>A rs34511277
NM_032383.5(HPS3):c.2526C>T (p.His842=) rs3732557
NM_032383.5(HPS3):c.2527G>A (p.Val843Ile) rs150765088

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