ClinVar Miner

List of variants reported as likely benign for Hermansky-Pudlak syndrome 2

Included ClinVar conditions (1):
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Total variants: 27
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HGVS dbSNP
NM_003664.4(AP3B1):c.1069A>G (p.Ile357Val) rs142025324
NM_003664.4(AP3B1):c.1367T>C (p.Ile456Thr) rs536306260
NM_003664.4(AP3B1):c.1421C>T (p.Ala474Val) rs191850940
NM_003664.4(AP3B1):c.1857T>G (p.Leu619=) rs115892142
NM_003664.4(AP3B1):c.2310C>T (p.Asp770=) rs142938290
NM_003664.4(AP3B1):c.2340C>T (p.Ser780=) rs199599147
NM_003664.4(AP3B1):c.2345C>T (p.Ser782Phe) rs143589037
NM_003664.4(AP3B1):c.2769A>C (p.Lys923Asn) rs201179527
NM_003664.4(AP3B1):c.2915A>G (p.Asn972Ser) rs139968311
NM_003664.4(AP3B1):c.303C>T (p.Tyr101=) rs115747826
NM_003664.4(AP3B1):c.822C>T (p.Tyr274=) rs112652327
NM_003664.4(AP3B1):c.942G>A (p.Ala314=) rs146871001
NM_003664.5(AP3B1):c.1230+10C>T rs1580431334
NM_003664.5(AP3B1):c.129-14_129-10del rs982597895
NM_003664.5(AP3B1):c.1651-5A>G rs1356238571
NM_003664.5(AP3B1):c.1704C>T (p.Tyr568=) rs376978572
NM_003664.5(AP3B1):c.1749G>A (p.Pro583=) rs201238945
NM_003664.5(AP3B1):c.2172G>A (p.Gln724=) rs551799202
NM_003664.5(AP3B1):c.2424T>C (p.Asp808=) rs144240072
NM_003664.5(AP3B1):c.2502C>G (p.Pro834=) rs747086403
NM_003664.5(AP3B1):c.2700C>T (p.Val900=) rs756834284
NM_003664.5(AP3B1):c.2853T>C (p.Ile951=) rs1263221940
NM_003664.5(AP3B1):c.3054T>C (p.Thr1018=) rs746152289
NM_003664.5(AP3B1):c.306G>C (p.Leu102=) rs746322233
NM_003664.5(AP3B1):c.339A>C (p.Ala113=) rs7706167
NM_003664.5(AP3B1):c.648G>A (p.Pro216=) rs773924247
NM_003664.5(AP3B1):c.687A>G (p.Leu229=) rs35496909

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