ClinVar Miner

List of variants in gene HPS3 reported as uncertain significance for albinism

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP
NM_032383.4(HPS3):c.-108C>T rs886058074
NM_032383.4(HPS3):c.884+21_884+25dup rs10693502
NM_032383.4(HPS3):c.884+22_884+25dup rs10693502
NM_032383.4(HPS3):c.884+24_884+25dup rs10693502
NM_032383.5(HPS3):c.-43C>A rs375227018
NM_032383.5(HPS3):c.1136C>T (p.Thr379Met) rs149620802
NM_032383.5(HPS3):c.1152C>T (p.His384=) rs113381494
NM_032383.5(HPS3):c.1153G>A (p.Val385Ile) rs749726836
NM_032383.5(HPS3):c.1196G>T (p.Ser399Ile) rs886058078
NM_032383.5(HPS3):c.1208C>T (p.Ala403Val) rs773950483
NM_032383.5(HPS3):c.1366A>G (p.Ile456Val) rs149640235
NM_032383.5(HPS3):c.1379_1381del (p.Arg460_Gln461delinsLys) rs775762509
NM_032383.5(HPS3):c.158A>G (p.Gln53Arg) rs199663930
NM_032383.5(HPS3):c.1711C>T (p.His571Tyr) rs142027515
NM_032383.5(HPS3):c.1768C>T (p.Arg590Cys) rs199882259
NM_032383.5(HPS3):c.1821C>G (p.Ile607Met) rs148168280
NM_032383.5(HPS3):c.196C>T (p.Arg66Cys) rs529838933
NM_032383.5(HPS3):c.2055G>A (p.Leu685=) rs140443498
NM_032383.5(HPS3):c.2124C>T (p.Gly708=) rs138987987
NM_032383.5(HPS3):c.2215G>A (p.Gly739Arg) rs78336249
NM_032383.5(HPS3):c.2224G>A (p.Val742Met) rs886058079
NM_032383.5(HPS3):c.51C>T (p.Pro17=) rs141883346
NM_032383.5(HPS3):c.571G>A (p.Val191Ile) rs779612018
NM_032383.5(HPS3):c.573T>C (p.Val191=) rs746331416
NM_032383.5(HPS3):c.716T>G (p.Ile239Ser) rs886058075
NM_032383.5(HPS3):c.823G>A (p.Glu275Lys) rs34388030
NM_032383.5(HPS3):c.884+11_884+12insT rs886058076

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