ClinVar Miner

List of variants reported as benign for alpha granule disease by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 65
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HGVS dbSNP
NM_002658.5(PLAU):c.*141C>T rs4065
NM_002658.5(PLAU):c.*266T>C rs565576288
NM_002658.5(PLAU):c.*335G>A rs185909762
NM_002658.5(PLAU):c.*355C>T rs140559980
NM_002658.5(PLAU):c.*398C>T rs190769030
NM_002658.5(PLAU):c.*444T>A rs145634997
NM_002658.5(PLAU):c.*520G>T rs117134857
NM_002658.5(PLAU):c.*52T>A rs560674195
NM_002658.5(PLAU):c.*60A>C rs142117323
NM_002658.5(PLAU):c.*844del rs2227574
NM_002658.5(PLAU):c.-18C>A rs2227555
NM_002658.5(PLAU):c.-20A>G rs201591610
NM_002658.5(PLAU):c.-25C>T rs2227579
NM_002658.5(PLAU):c.1048T>C (p.Tyr350His) rs72816325
NM_002658.5(PLAU):c.1053C>T (p.Tyr351=) rs558920700
NM_002658.5(PLAU):c.1092C>T (p.Asp364=) rs148333167
NM_002658.5(PLAU):c.111A>G (p.Gly37=) rs200927138
NM_002658.5(PLAU):c.1222G>A (p.Val408Ile) rs200165551
NM_002658.5(PLAU):c.162A>G (p.Pro54=) rs142059320
NM_002658.5(PLAU):c.163A>G (p.Lys55Glu) rs147372618
NM_002658.5(PLAU):c.172G>A (p.Gly58Arg) rs55744193
NM_002658.5(PLAU):c.17C>A (p.Ala6Glu) rs371106595
NM_002658.5(PLAU):c.236G>A (p.Arg79Gln) rs201299522
NM_002658.5(PLAU):c.308C>T (p.Thr103Met) rs370278611
NM_002658.5(PLAU):c.43G>T (p.Val15Leu) rs2227580
NM_002658.5(PLAU):c.581C>T (p.Ala194Val) rs145865648
NM_002658.5(PLAU):c.602G>T (p.Arg201Leu) rs549461157
NM_002658.5(PLAU):c.681-7C>T rs2227566
NM_002658.5(PLAU):c.691A>C (p.Lys231Gln) rs2227567
NM_002658.5(PLAU):c.706A>G (p.Ile236Val) rs150389556
NM_002658.5(PLAU):c.822C>T (p.Asn274=) rs2227568
NM_002658.5(PLAU):c.878G>A (p.Arg293Gln) rs546931331
NM_002658.6(PLAU):c.1193G>T (p.Arg398Leu)
NM_002658.6(PLAU):c.445C>T (p.His149Tyr)
NM_002658.6(PLAU):c.559A>G (p.Ile187Val)
NM_002658.6(PLAU):c.830-13T>C
NM_002658.6(PLAU):c.972C>T (p.Thr324=)
NM_015175.2(NBEAL2):c.*104del rs397708574
NM_015175.2(NBEAL2):c.*179C>A rs111271184
NM_015175.2(NBEAL2):c.*216A>G rs2305640
NM_015175.2(NBEAL2):c.123C>G (p.Ser41=) rs61734084
NM_015175.2(NBEAL2):c.1340G>A (p.Arg447His) rs17079425
NM_015175.2(NBEAL2):c.1353G>A (p.Pro451=) rs115611407
NM_015175.2(NBEAL2):c.1380G>A (p.Pro460=) rs114363730
NM_015175.2(NBEAL2):c.1531C>G (p.Arg511Gly) rs11720139
NM_015175.2(NBEAL2):c.2231C>T (p.Pro744Leu) rs375744996
NM_015175.2(NBEAL2):c.2445G>A (p.Ala815=) rs116456978
NM_015175.2(NBEAL2):c.384C>G (p.Gly128=) rs113523265
NM_015175.2(NBEAL2):c.4170G>A (p.Ser1390=) rs139822454
NM_015175.2(NBEAL2):c.4257G>A (p.Pro1419=) rs116791394
NM_015175.2(NBEAL2):c.4704C>T (p.Asn1568=) rs12489851
NM_015175.2(NBEAL2):c.4911C>T (p.Ser1637=) rs2305634
NM_015175.2(NBEAL2):c.4995G>A (p.Val1665=) rs2305635
NM_015175.2(NBEAL2):c.5302-13A>T rs11928558
NM_015175.2(NBEAL2):c.5661A>C (p.Pro1887=) rs140548682
NM_015175.2(NBEAL2):c.6054C>G (p.Pro2018=) rs1079276
NM_015175.2(NBEAL2):c.6161C>T (p.Ser2054Phe) rs2305637
NM_015175.2(NBEAL2):c.6318C>T (p.Tyr2106=) rs141569354
NM_015175.2(NBEAL2):c.6919+9T>C rs3816531
NM_015175.2(NBEAL2):c.7507+6A>G rs74418680
NM_015175.3(NBEAL2):c.187C>T (p.Leu63=) rs80105480
NM_015175.3(NBEAL2):c.2356G>A (p.Ala786Thr)
NM_015175.3(NBEAL2):c.6378C>T (p.Ile2126=) rs187781607
NM_015175.3(NBEAL2):c.7836G>A (p.Gln2612=) rs72909849
NM_015175.3(NBEAL2):c.860A>C (p.Asp287Ala) rs200666191

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