ClinVar Miner

List of variants in gene HPS4 studied for Hermansky-Pudlak syndrome 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
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_022081.6(HPS4):c.*1229C>T rs6147576 0.47868
NM_022081.6(HPS4):c.*1231C>T rs56271395 0.35531
NM_022081.6(HPS4):c.1327C>G (p.Leu443Val) rs2014410 0.35365
NM_022081.6(HPS4):c.-530A>G rs3747137 0.11724
NM_022081.6(HPS4):c.558G>A (p.Ser186=) rs13054747 0.03591
NM_022081.6(HPS4):c.1899C>T (p.Val633=) rs35993959 0.01542
NM_022081.6(HPS4):c.*1225T>C rs886057311 0.00821
NM_022081.6(HPS4):c.751A>T (p.Thr251Ser) rs34962745 0.00699
NM_022081.6(HPS4):c.*1762G>A rs139974836 0.00680
NM_022081.6(HPS4):c.710C>T (p.Ala237Val) rs77597168 0.00411
NM_022081.6(HPS4):c.250A>G (p.Ile84Val) rs149830675 0.00306
NM_022081.6(HPS4):c.*1589C>A rs117397456 0.00238
NM_022081.6(HPS4):c.696G>A (p.Pro232=) rs3747132 0.00237
NM_022081.6(HPS4):c.1543T>C (p.Cys515Arg) rs148134252 0.00092
NM_022081.6(HPS4):c.373C>G (p.Leu125Val) rs180729981 0.00009
NM_022081.6(HPS4):c.649C>T (p.Arg217Ter) rs119471023 0.00004
NM_022081.6(HPS4):c.765C>T (p.Ala255=) rs886057318 0.00001
NM_022081.6(HPS4):c.*1024_*1028del rs886057313
NM_022081.6(HPS4):c.*1191TG[16] rs134978
NM_022081.6(HPS4):c.*1191TG[17] rs134978
NM_022081.6(HPS4):c.*1191TG[20] rs134978
NM_022081.6(HPS4):c.*1207_*1227delinsC rs886057310
NM_022081.6(HPS4):c.*1207_*1227delinsCGC rs886057310
NM_022081.6(HPS4):c.*1223_*1238del rs886057303
NM_022081.6(HPS4):c.*1227_*1236del rs755364858
NM_022081.6(HPS4):c.*1229CG[4] rs10573454
NM_022081.6(HPS4):c.*1229CG[5] rs10573454
NM_022081.6(HPS4):c.*1229CG[6] rs10573454
NM_022081.6(HPS4):c.*1229CG[7] rs10573454
NM_022081.6(HPS4):c.*1229CG[8] rs10573454
NM_022081.6(HPS4):c.*1229_*1237delinsTGT rs886057304
NM_022081.6(HPS4):c.*1229_*1237delinsTGTGT rs886057304
NM_022081.6(HPS4):c.*1236_*1237insTAA rs1555885488
NM_022081.6(HPS4):c.1132C>T (p.Gln378Ter) rs369053765
NM_022081.6(HPS4):c.1501_1505del (p.His501fs)
NM_022081.6(HPS4):c.1535C>G (p.Ser512Ter) rs150216540
NM_022081.6(HPS4):c.1713+1G>A rs2146534178
NM_022081.6(HPS4):c.276+5G>A rs1602079277
NM_022081.6(HPS4):c.803+1G>A

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