ClinVar Miner

List of variants in gene AP3B1 reported as uncertain significance for Hermansky-Pudlak syndrome 2

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Total variants: 40
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HGVS dbSNP
NC_000005.9:g.(?_77536666)_(77590423_?)dup
NM_003664.4(AP3B1):c.1022G>A (p.Arg341His) rs141832130
NM_003664.4(AP3B1):c.1159A>G (p.Thr387Ala)
NM_003664.4(AP3B1):c.1184A>G (p.Asn395Ser) rs145351589
NM_003664.4(AP3B1):c.1193A>G (p.Asn398Ser)
NM_003664.4(AP3B1):c.1198G>C (p.Ala400Pro) rs150000996
NM_003664.4(AP3B1):c.1292G>A (p.Cys431Tyr)
NM_003664.4(AP3B1):c.1325G>A (p.Cys442Tyr)
NM_003664.4(AP3B1):c.1363G>A (p.Glu455Lys)
NM_003664.4(AP3B1):c.1412T>A (p.Met471Lys) rs771964089
NM_003664.4(AP3B1):c.1421C>T (p.Ala474Val)
NM_003664.4(AP3B1):c.1675T>A (p.Leu559Ile)
NM_003664.4(AP3B1):c.1679A>G (p.Asn560Ser)
NM_003664.4(AP3B1):c.1718G>A (p.Arg573His) rs1229904606
NM_003664.4(AP3B1):c.1720A>G (p.Thr574Ala) rs141789572
NM_003664.4(AP3B1):c.1747C>G (p.Pro583Ala)
NM_003664.4(AP3B1):c.1748C>T (p.Pro583Leu)
NM_003664.4(AP3B1):c.176A>G (p.Lys59Arg)
NM_003664.4(AP3B1):c.1868C>T (p.Ser623Phe)
NM_003664.4(AP3B1):c.2018A>G (p.Lys673Arg)
NM_003664.4(AP3B1):c.2188C>T (p.Arg730Trp) rs141102178
NM_003664.4(AP3B1):c.2239A>G (p.Lys747Glu)
NM_003664.4(AP3B1):c.2527A>G (p.Met843Val)
NM_003664.4(AP3B1):c.2548C>A (p.His850Asn)
NM_003664.4(AP3B1):c.2673G>C (p.Gln891His)
NM_003664.4(AP3B1):c.2709A>G (p.Gln903=)
NM_003664.4(AP3B1):c.2765A>G (p.Lys922Arg) rs1554059568
NM_003664.4(AP3B1):c.2779G>A (p.Gly927Ser)
NM_003664.4(AP3B1):c.279+6G>A rs1269853831
NM_003664.4(AP3B1):c.2812T>C (p.Ser938Pro)
NM_003664.4(AP3B1):c.2890T>C (p.Leu964=) rs750377910
NM_003664.4(AP3B1):c.2900A>G (p.Lys967Arg)
NM_003664.4(AP3B1):c.2915A>G (p.Asn972Ser) rs139968311
NM_003664.4(AP3B1):c.2932C>T (p.Pro978Ser)
NM_003664.4(AP3B1):c.3131+5G>T rs191616060
NM_003664.4(AP3B1):c.38G>C (p.Gly13Ala)
NM_003664.4(AP3B1):c.823G>A (p.Glu275Lys)
NM_003664.4(AP3B1):c.869C>T (p.Pro290Leu) rs759296897
NM_003664.4(AP3B1):c.929G>C (p.Ser310Thr)
NM_003664.4(AP3B1):c.97G>T (p.Ala33Ser)

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