ClinVar Miner

List of variants in gene HPS5 reported as uncertain significance for Hermansky-Pudlak syndrome 5

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Gene type:
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Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_181507.2(HPS5):c.1609G>T (p.Val537Leu) rs149677540 0.00276
NM_181507.2(HPS5):c.309A>G (p.Glu103=) rs77722090 0.00163
NM_181507.2(HPS5):c.3046G>A (p.Glu1016Lys) rs17853184 0.00144
NM_181507.2(HPS5):c.2562-14G>C rs199999276 0.00107
NM_181507.2(HPS5):c.241G>A (p.Ala81Thr) rs147053126 0.00102
NM_181507.2(HPS5):c.2866T>C (p.Tyr956His) rs147430035 0.00047
NM_181507.2(HPS5):c.986-5C>T rs201439984 0.00036
NM_181507.2(HPS5):c.2721A>G (p.Ser907=) rs139795577 0.00032
NM_181507.2(HPS5):c.1692T>C (p.Pro564=) rs150590027 0.00028
NM_181507.2(HPS5):c.*812A>C rs755078355 0.00027
NM_181507.2(HPS5):c.2525C>T (p.Pro842Leu) rs149039105 0.00025
NM_181507.2(HPS5):c.*95C>A rs776484868 0.00023
NM_181507.2(HPS5):c.2136T>A (p.Ser712Arg) rs149564550 0.00023
NM_181507.2(HPS5):c.3297C>T (p.Cys1099=) rs139039126 0.00019
NM_181507.2(HPS5):c.*182C>T rs886048074 0.00016
NM_181507.2(HPS5):c.1805G>A (p.Ser602Asn) rs142793392 0.00015
NM_181507.2(HPS5):c.1020G>T (p.Leu340Phe) rs149512871 0.00014
NM_181507.2(HPS5):c.1769A>C (p.Lys590Thr) rs147413884 0.00012
NM_181507.2(HPS5):c.1012A>C (p.Asn338His) rs144134556 0.00010
NM_181507.2(HPS5):c.2247A>G (p.Val749=) rs139004989 0.00009
NM_181507.2(HPS5):c.1067C>A (p.Ser356Tyr) rs371346921 0.00008
NM_181507.2(HPS5):c.1940T>C (p.Leu647Ser) rs781166596 0.00008
NM_181507.2(HPS5):c.2521G>T (p.Val841Phe) rs142090060 0.00006
NM_181507.2(HPS5):c.285-10A>G rs200449378 0.00006
NM_181507.2(HPS5):c.*157G>A rs916119305 0.00005
NM_181507.2(HPS5):c.2461G>T (p.Val821Leu) rs373228021 0.00005
NM_181507.2(HPS5):c.3364C>T (p.Arg1122Trp) rs754189788 0.00004
NM_181507.2(HPS5):c.535G>A (p.Val179Ile) rs373277149 0.00004
NM_181507.2(HPS5):c.1075C>T (p.Arg359Cys) rs143073506 0.00003
NM_181507.2(HPS5):c.1496C>T (p.Ser499Leu) rs756408229 0.00003
NM_181507.2(HPS5):c.1536G>A (p.Met512Ile) rs139349345 0.00003
NM_181507.2(HPS5):c.3059-10G>A rs764418389 0.00003
NM_181507.2(HPS5):c.1076G>A (p.Arg359His) rs774619545 0.00002
NM_181507.2(HPS5):c.191G>T (p.Trp64Leu) rs747733616 0.00002
NM_181507.2(HPS5):c.*1023T>G rs886048069 0.00001
NM_181507.2(HPS5):c.*276T>G rs146958457 0.00001
NM_181507.2(HPS5):c.*469A>G rs1858594870 0.00001
NM_181507.2(HPS5):c.*839T>C rs537810532 0.00001
NM_181507.2(HPS5):c.1325A>G (p.Glu442Gly) rs747748271 0.00001
NM_181507.2(HPS5):c.1475T>A (p.Leu492Gln) rs190883305 0.00001
NM_181507.2(HPS5):c.1673G>T (p.Gly558Val) rs370396275 0.00001
NM_181507.2(HPS5):c.1803T>C (p.Thr601=) rs762327635 0.00001
NM_181507.2(HPS5):c.1837C>A (p.Leu613Ile) rs190221223 0.00001
NM_181507.2(HPS5):c.2066A>G (p.Glu689Gly) rs564959505 0.00001
NM_181507.2(HPS5):c.2194G>C (p.Gly732Arg) rs763599072 0.00001
NM_181507.2(HPS5):c.2716C>T (p.Arg906Trp) rs775281184 0.00001
NM_181507.2(HPS5):c.2838-13T>C rs377293025 0.00001
NM_181507.2(HPS5):c.3076G>A (p.Val1026Met) rs369368194 0.00001
NM_181507.2(HPS5):c.3214G>A (p.Ala1072Thr) rs886048075 0.00001
NM_181507.2(HPS5):c.3257G>T (p.Gly1086Val) rs773390398 0.00001
NM_181507.2(HPS5):c.3259C>T (p.Leu1087=) rs868410563 0.00001
NM_181507.2(HPS5):c.587G>A (p.Arg196Gln) rs974587263 0.00001
NM_181507.2(HPS5):c.755G>A (p.Gly252Glu) rs755846129 0.00001
NM_181507.2(HPS5):c.*1201A>G rs1858510966
NM_181507.2(HPS5):c.*655A>C rs886048073
NM_181507.2(HPS5):c.*956T>G rs886048072
NM_181507.2(HPS5):c.*960T>A rs886048071
NM_181507.2(HPS5):c.1032C>T (p.His344=) rs1385130088
NM_181507.2(HPS5):c.1123C>G (p.Arg375Gly) rs761598432
NM_181507.2(HPS5):c.1423del (p.Leu475fs) rs766602179
NM_181507.2(HPS5):c.1479A>G (p.Pro493=) rs886048081
NM_181507.2(HPS5):c.1510+3G>A rs886048080
NM_181507.2(HPS5):c.1549A>C (p.Lys517Gln) rs770838422
NM_181507.2(HPS5):c.163G>A (p.Gly55Arg) rs774361456
NM_181507.2(HPS5):c.1785-9C>A rs886048079
NM_181507.2(HPS5):c.2058A>G (p.Glu686=) rs1860442520
NM_181507.2(HPS5):c.2068A>C (p.Lys690Gln)
NM_181507.2(HPS5):c.2144A>G (p.Glu715Gly) rs886048078
NM_181507.2(HPS5):c.2295G>C (p.Leu765Phe)
NM_181507.2(HPS5):c.260A>T (p.Asp87Val) rs886048083
NM_181507.2(HPS5):c.2659C>A (p.Pro887Thr)
NM_181507.2(HPS5):c.406C>G (p.Leu136Val) rs2134473815
NM_181507.2(HPS5):c.46G>C (p.Ala16Pro) rs1590156657
NM_181507.2(HPS5):c.885C>T (p.Leu295=) rs369851648

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