ClinVar Miner

List of variants studied for Hermansky-Pudlak syndrome 2 by Fulgent Genetics, Fulgent Genetics

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_003664.5(AP3B1):c.1198G>C (p.Ala400Pro) rs150000996 0.00088
NM_003664.5(AP3B1):c.279+16A>G rs199804239 0.00035
NM_003664.5(AP3B1):c.2188C>T (p.Arg730Trp) rs141102178 0.00032
NM_003664.5(AP3B1):c.2239A>G (p.Lys747Glu) rs201886263 0.00015
NM_003664.5(AP3B1):c.1720A>G (p.Thr574Ala) rs141789572 0.00013
NM_003664.5(AP3B1):c.1367T>C (p.Ile456Thr) rs536306260 0.00007
NM_003664.5(AP3B1):c.854A>G (p.Asp285Gly) rs554863664 0.00004
NM_003664.5(AP3B1):c.1075A>G (p.Thr359Ala) rs148160411 0.00003
NM_003664.5(AP3B1):c.466A>G (p.Lys156Glu) rs1424373279 0.00002
NM_003664.5(AP3B1):c.869C>T (p.Pro290Leu) rs759296897 0.00001
NM_003664.5(AP3B1):c.310C>T (p.Arg104Ter) rs1746480237
NM_003664.5(AP3B1):c.705T>C (p.Asp235=) rs779084730
NM_003664.5(AP3B1):c.830A>G (p.Asp277Gly) rs147761913

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