ClinVar Miner

List of variants reported as benign for Hermansky-Pudlak syndrome

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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_003664.5(AP3B1):c.1754T>A (p.Val585Glu) rs6453373 0.91917
NM_022081.6(HPS4):c.*1613C>A rs3752589 0.88461
NM_022081.6(HPS4):c.-296T>C rs5761557 0.88308
NM_022081.6(HPS4):c.1816C>T (p.His606Tyr) rs1894706 0.86290
NM_022081.6(HPS4):c.1875G>T (p.Gln625His) rs1894704 0.86250
NM_022081.6(HPS4):c.686A>G (p.Glu229Gly) rs713998 0.81679
NM_022081.6(HPS4):c.1654G>A (p.Val552Met) rs5752330 0.81665
NM_022081.6(HPS4):c.-253C>T rs3747134 0.81120
NM_022081.5(HPS4):c.-662G>T rs968425 0.80578
NM_032383.5(HPS3):c.1494G>A (p.Gln498=) rs6440589 0.50726
NM_022081.6(HPS4):c.1327C>G (p.Leu443Val) rs2014410 0.35365
NM_003664.5(AP3B1):c.*107T>A rs11552314 0.29901
NM_032383.5(HPS3):c.981A>G (p.Thr327=) rs11718908 0.28006
NM_000195.5(HPS1):c.636C>T (p.Leu212=) rs1801287 0.25851
NM_003664.5(AP3B1):c.2016T>C (p.Ala672=) rs42360 0.23948
NM_000195.5(HPS1):c.1397+7G>C rs2296432 0.20947
NM_000195.5(HPS1):c.1397+8G>T rs2296433 0.20935
NM_003664.5(AP3B1):c.1038T>C (p.Asn346=) rs4532349 0.18606
NM_032383.5(HPS3):c.2526C>T (p.His842=) rs3732557 0.15600
NM_000195.5(HPS1):c.1808A>G (p.Gln603Arg) rs2296436 0.09989
NM_000195.5(HPS1):c.297C>T (p.Thr99=) rs11539873 0.04930
NM_000195.5(HPS1):c.11T>C (p.Val4Ala) rs58548334 0.03653
NM_032383.5(HPS3):c.1479G>A (p.Thr493=) rs34197730 0.03245
NM_032383.5(HPS3):c.970+7A>G rs114029765 0.02580
NM_000195.5(HPS1):c.1767G>A (p.Ala589=) rs79218830 0.01605
NM_000195.5(HPS1):c.159G>A (p.Pro53=) rs78504928 0.01348
NM_032383.5(HPS3):c.2215G>A (p.Gly739Arg) rs78336249 0.01058
NM_000195.5(HPS1):c.255+9A>G rs78927693 0.00885
NM_000195.5(HPS1):c.779G>A (p.Arg260Gln) rs56378825 0.00761
NM_000195.5(HPS1):c.1698G>A (p.Ser566=) rs148450315 0.00596
NM_032383.5(HPS3):c.823G>A (p.Glu275Lys) rs34388030 0.00590
NM_032383.5(HPS3):c.1366A>G (p.Ile456Val) rs149640235 0.00498
NM_000195.5(HPS1):c.27G>C (p.Glu9Asp) rs7914192 0.00426
NM_032383.5(HPS3):c.2055G>A (p.Leu685=) rs140443498 0.00300
NM_000195.5(HPS1):c.1683C>T (p.Cys561=) rs112337765 0.00297
NM_000195.5(HPS1):c.1532+5G>A rs199874645 0.00273
NM_000195.5(HPS1):c.80G>A (p.Arg27Gln) rs116143727 0.00193
NM_000195.5(HPS1):c.557C>T (p.Ala186Val) rs1801286 0.00125
NM_000195.5(HPS1):c.952C>G (p.Leu318Val) rs201808262 0.00076
NM_032383.5(HPS3):c.1152C>T (p.His384=) rs113381494 0.00060
NM_032383.5(HPS3):c.884+7T>C rs202215373 0.00058
NM_032383.5(HPS3):c.2378T>C (p.Val793Ala) rs144099522 0.00038
NM_032383.5(HPS3):c.2196C>T (p.His732=) rs148398659 0.00028
NM_032383.5(HPS3):c.1773G>A (p.Thr591=) rs559550536 0.00007
NM_000195.5(HPS1):c.2052C>T (p.Ala684=) rs576260502 0.00002
NM_032383.5(HPS3):c.2527G>A (p.Val843Ile) rs150765088 0.00002
NM_000096.4(CP):c.*828dup rs35907111
NM_000195.5(HPS1):c.1472C>G (p.Pro491Arg) rs2296434
NM_000195.5(HPS1):c.1527C>G (p.Leu509=) rs17109850
NM_000195.5(HPS1):c.847G>T (p.Gly283Trp) rs11592273
NM_003664.5(AP3B1):c.280-6dup rs5868908
NM_012388.4(BLOC1S6):c.*2818ACAA[6] rs376870196
NM_022081.6(HPS4):c.*1229CG[4] rs10573454
NM_032383.5(HPS3):c.2887+18_2887+19dup rs397710976
NM_032383.5(HPS3):c.2887+19dup rs397710976

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