ClinVar Miner

List of variants studied for Hermansky-Pudlak syndrome 6 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_024747.6(HPS6):c.*178T>G rs3816 0.19913
NM_024747.6(HPS6):c.516G>A (p.Gly172=) rs3737243 0.07919
NM_024747.6(HPS6):c.1764G>A (p.Gln588=) rs145597717 0.00963
NM_024747.6(HPS6):c.698T>G (p.Leu233Arg) rs36078476 0.00592
NM_024747.6(HPS6):c.398C>T (p.Ala133Val) rs199816481 0.00315
NM_024747.6(HPS6):c.99A>G (p.Arg33=) rs139591041 0.00234
NM_024747.6(HPS6):c.1779G>A (p.Pro593=) rs77529785 0.00228
NM_024747.6(HPS6):c.337C>T (p.Arg113Trp) rs371307947 0.00222
NM_024747.6(HPS6):c.632G>C (p.Gly211Ala) rs200584437 0.00183
NM_024747.6(HPS6):c.1692C>T (p.Pro564=) rs147449083 0.00070
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.-5G>A rs376684120 0.00027
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.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.112C>G (p.Pro38Ala) rs746813506 0.00012
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.634G>A (p.Val212Met) rs375789510 0.00007
NM_024747.6(HPS6):c.1152T>C (p.Phe384=) rs200681093 0.00006
NM_024747.6(HPS6):c.2029G>A (p.Glu677Lys) rs373272114 0.00006
NM_024747.6(HPS6):c.277G>T (p.Val93Leu) rs185571437 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.2045G>A (p.Arg682His) rs778873202 0.00002
NM_024747.6(HPS6):c.105T>C (p.Arg35=) rs573488604 0.00001
NM_024747.6(HPS6):c.1430A>C (p.Asp477Ala) rs755069670 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.1253G>T (p.Gly418Val) rs201468546
NM_024747.6(HPS6):c.138G>A (p.Leu46=) rs886046648
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.194C>G (p.Ala65Gly) rs886046649
NM_024747.6(HPS6):c.238dup (p.Asp80fs) rs281865108
NM_024747.6(HPS6):c.298C>T (p.Leu100=) rs886046650
NM_024747.6(HPS6):c.444C>G (p.Ala148=) rs533784966
NM_024747.6(HPS6):c.732A>G (p.Gly244=) rs756521666

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