ClinVar Miner

List of variants in gene CP, HPS3 studied for Hermansky-Pudlak syndrome 3

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Total variants: 39
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HGVS dbSNP
NM_000096.4(CP):c.*1007T>A
NM_000096.4(CP):c.*1081T>A rs188137938
NM_000096.4(CP):c.*1157C>T rs11537809
NM_000096.4(CP):c.*259C>T
NM_000096.4(CP):c.*343A>G rs886058085
NM_000096.4(CP):c.*373C>G rs370247691
NM_000096.4(CP):c.*373C>T
NM_000096.4(CP):c.*474T>C
NM_000096.4(CP):c.*509A>C rs13098532
NM_000096.4(CP):c.*536G>C
NM_000096.4(CP):c.*572A>G rs561191589
NM_000096.4(CP):c.*583T>C rs886058084
NM_000096.4(CP):c.*768T>C rs35805816
NM_000096.4(CP):c.*769G>A rs1053669
NM_000096.4(CP):c.*879A>C rs144029944
NM_000096.4(CP):c.*912C>G rs149920453
NM_032383.5(HPS3):c.*128A>G rs73019023
NM_032383.5(HPS3):c.*135T>C rs375383865
NM_032383.5(HPS3):c.*138A>T
NM_032383.5(HPS3):c.*170C>T rs182666670
NM_032383.5(HPS3):c.*172G>A rs34511277
NM_032383.5(HPS3):c.*207C>T
NM_032383.5(HPS3):c.*239G>A rs886058083
NM_032383.5(HPS3):c.*95A>C
NM_032383.5(HPS3):c.*96T>A rs879086473
NM_032383.5(HPS3):c.*98A>T
NM_032383.5(HPS3):c.2378T>C (p.Val793Ala) rs144099522
NM_032383.5(HPS3):c.2469A>G (p.Thr823=) rs370137287
NM_032383.5(HPS3):c.2482-2A>G rs397507168
NM_032383.5(HPS3):c.2526C>T (p.His842=) rs3732557
NM_032383.5(HPS3):c.2527G>A (p.Val843Ile) rs150765088
NM_032383.5(HPS3):c.2589+1G>C rs281865095
NM_032383.5(HPS3):c.2658C>T (p.Asp886=) rs141916243
NM_032383.5(HPS3):c.2692C>T (p.Arg898Cys) rs543058717
NM_032383.5(HPS3):c.2699G>A (p.Arg900His) rs202157837
NM_032383.5(HPS3):c.2737_2738GA[1] (p.Glu913fs) rs1277509410
NM_032383.5(HPS3):c.2887+8G>T
NM_032383.5(HPS3):c.2888-1612G>A rs281865096
NM_032383.5(HPS3):c.2936A>G (p.Asn979Ser)

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