ClinVar Miner

List of variants reported as benign for Hermansky-Pudlak syndrome 4

Included ClinVar conditions (1):
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Total variants: 19
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HGVS dbSNP gnomAD frequency
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.706+39G>T rs739289 0.83516
NM_022081.6(HPS4):c.707-28T>C rs3213583 0.83408
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.*1962C>T rs5761533 0.44728
NM_022081.6(HPS4):c.1327C>G (p.Leu443Val) rs2014410 0.35365
NM_022081.6(HPS4):c.*1250C>T rs7291576 0.02974
NM_022081.6(HPS4):c.*2269A>G rs147989849 0.00883
NM_022081.6(HPS4):c.1061C>G (p.Ser354Cys) rs116769827 0.00865
NM_022081.6(HPS4):c.-554C>T rs115916720 0.00769
NM_022081.6(HPS4):c.751A>T (p.Thr251Ser) rs34962745 0.00699
NM_022081.6(HPS4):c.250A>G (p.Ile84Val) rs149830675 0.00306
NM_022081.6(HPS4):c.*1687A>G rs3752588 0.00207
NM_022081.6(HPS4):c.*1387T>A rs3752590 0.00082
NM_022081.6(HPS4):c.2079C>T (p.Ser693=) rs138189133 0.00002
NM_022081.6(HPS4):c.1060T>A (p.Ser354Thr) rs114685298
NM_022081.6(HPS4):c.741T>A (p.Pro247=) rs35126034

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