ClinVar Miner

List of variants in gene HPS6 reported as uncertain significance for Hermansky-Pudlak syndrome

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_024747.6(HPS6):c.337C>T (p.Arg113Trp) rs371307947 0.00222
NM_024747.6(HPS6):c.1060C>T (p.His354Tyr) rs149692177 0.00034
NM_024747.6(HPS6):c.1363T>C (p.Leu455=) rs144777687 0.00029
NM_024747.6(HPS6):c.1035G>A (p.Arg345=) rs374860183 0.00024
NM_024747.6(HPS6):c.1039G>A (p.Val347Ile) rs139517839 0.00023
NM_024747.6(HPS6):c.2260C>G (p.Leu754Val) rs202188533 0.00023
NM_024747.6(HPS6):c.1346C>G (p.Ser449Cys) rs141068948 0.00020
NM_024747.6(HPS6):c.541A>G (p.Thr181Ala) rs144257610 0.00019
NM_024747.6(HPS6):c.1951C>T (p.Arg651Trp) rs376165374 0.00016
NM_024747.6(HPS6):c.2181A>G (p.Ala727=) rs199518658 0.00013
NM_024747.6(HPS6):c.2231G>T (p.Gly744Val) rs770148492 0.00010
NM_024747.6(HPS6):c.727C>A (p.Pro243Thr) rs767667481 0.00010
NM_024747.6(HPS6):c.692C>G (p.Pro231Arg) rs754025975 0.00009
NM_024747.6(HPS6):c.634G>A (p.Val212Met) rs375789510 0.00007
NM_024747.6(HPS6):c.1152T>C (p.Phe384=) rs200681093 0.00006
NM_024747.6(HPS6):c.1606A>G (p.Arg536Gly) rs757589760 0.00004
NM_024747.6(HPS6):c.1181T>C (p.Val394Ala) rs146521433 0.00003
NM_024747.6(HPS6):c.1755G>T (p.Glu585Asp) rs781537152 0.00003
NM_024747.6(HPS6):c.2112C>T (p.Leu704=) rs764640708 0.00003
NM_024747.6(HPS6):c.1417G>A (p.Val473Met) rs542540023 0.00002
NM_024747.6(HPS6):c.2044C>T (p.Arg682Cys) rs749139864 0.00002
NM_024747.6(HPS6):c.2045G>A (p.Arg682His) rs778873202 0.00002
NM_024747.6(HPS6):c.1430A>C (p.Asp477Ala) rs755069670 0.00001
NM_024747.6(HPS6):c.1498G>A (p.Gly500Arg) rs772897521 0.00001
NM_024747.6(HPS6):c.1810C>G (p.Leu604Val) rs762013198 0.00001
NM_024747.6(HPS6):c.2166C>T (p.Phe722=) rs746069907 0.00001
NM_024747.6(HPS6):c.2254C>A (p.Pro752Thr) rs367872565 0.00001
NM_024747.6(HPS6):c.2307G>A (p.Pro769=) rs553794194 0.00001
NM_024747.6(HPS6):c.2323C>G (p.Leu775Val) rs4917959 0.00001
NM_024747.6(HPS6):c.303C>T (p.Ala101=) rs952447952 0.00001
NM_024747.6(HPS6):c.831C>G (p.Pro277=) rs1368416172 0.00001
NM_024747.6(HPS6):c.1127G>A (p.Arg376His) rs1270858817
NM_024747.6(HPS6):c.1201G>A (p.Asp401Asn) rs886046651
NM_024747.6(HPS6):c.1241G>A (p.Arg414Gln)
NM_024747.6(HPS6):c.1253G>T (p.Gly418Val) rs201468546
NM_024747.6(HPS6):c.1267C>T (p.Pro423Ser)
NM_024747.6(HPS6):c.1274A>T (p.Glu425Val)
NM_024747.6(HPS6):c.1360A>G (p.Met454Val) rs769401035
NM_024747.6(HPS6):c.1679G>T (p.Gly560Val) rs765206943
NM_024747.6(HPS6):c.1692C>A (p.Pro564=) rs147449083
NM_024747.6(HPS6):c.298C>T (p.Leu100=) rs886046650
NM_024747.6(HPS6):c.370G>T (p.Gly124Trp) rs766916912
NM_024747.6(HPS6):c.732A>G (p.Gly244=) rs756521666

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