ClinVar Miner

List of variants in gene HPS4 reported as uncertain significance for Hermansky-Pudlak syndrome

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Total variants: 26
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HGVS dbSNP
NM_001349896.1(HPS4):c.-569C>T rs34019374
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.*1225T>C rs886057311
NM_022081.6(HPS4):c.*1227_*1236del rs755364858
NM_022081.6(HPS4):c.*1229C>T rs6147576
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.*1231C>T rs56271395
NM_022081.6(HPS4):c.*1236_*1237insTAA rs1555885488
NM_022081.6(HPS4):c.*1762G>A rs139974836
NM_022081.6(HPS4):c.1543T>C (p.Cys515Arg) rs148134252
NM_022081.6(HPS4):c.250A>G (p.Ile84Val) rs149830675
NM_022081.6(HPS4):c.373C>G (p.Leu125Val) rs180729981
NM_022081.6(HPS4):c.710C>T (p.Ala237Val) rs77597168
NM_022081.6(HPS4):c.751A>T (p.Thr251Ser) rs34962745
NM_022081.6(HPS4):c.765C>T (p.Ala255=) rs886057318

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