ClinVar Miner

List of variants reported as benign for alpha granule disease

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_015175.3(NBEAL2):c.5302-13A>T rs11928558 0.94785
NM_015175.3(NBEAL2):c.6560+31G>C rs2305638 0.55153
NM_002658.6(PLAU):c.*141C>T rs4065 0.51476
NM_002658.6(PLAU):c.*844del rs2227574 0.50929
NM_002658.6(PLAU):c.681-7C>T rs2227566 0.50640
NM_015175.3(NBEAL2):c.4911C>T (p.Ser1637=) rs2305634 0.48105
NM_015175.3(NBEAL2):c.1033-28C>T rs13066214 0.48036
NM_015175.3(NBEAL2):c.4995G>A (p.Val1665=) rs2305635 0.34360
NM_015175.3(NBEAL2):c.6801+21A>C rs13081418 0.24157
NM_015175.3(NBEAL2):c.6161C>T (p.Ser2054Phe) rs2305637 0.13655
NM_002658.6(PLAU):c.822C>T (p.Asn274=) rs2227568 0.12381
NM_015175.3(NBEAL2):c.*179C>A rs111271184 0.06795
NM_015175.3(NBEAL2):c.1353G>A (p.Pro451=) rs115611407 0.06231
NM_015175.3(NBEAL2):c.*216A>G rs2305640 0.04972
NM_015175.3(NBEAL2):c.6919+9T>C rs3816531 0.04927
NM_002658.6(PLAU):c.691A>C (p.Lys231Gln) rs2227567 0.04766
NM_015175.3(NBEAL2):c.1340G>A (p.Arg447His) rs17079425 0.03601
NM_015175.3(NBEAL2):c.7507+6A>G rs74418680 0.02879
NM_015175.3(NBEAL2):c.4704C>T (p.Asn1568=) rs12489851 0.02789
NM_015175.3(NBEAL2):c.2445G>A (p.Ala815=) rs116456978 0.01945
NM_015175.3(NBEAL2):c.5661A>C (p.Pro1887=) rs140548682 0.01370
NM_002658.6(PLAU):c.-18C>A rs2227555 0.00948
NM_015175.3(NBEAL2):c.1380G>A (p.Pro460=) rs114363730 0.00928
NM_015175.3(NBEAL2):c.6318C>T (p.Tyr2106=) rs141569354 0.00844
NM_015175.3(NBEAL2):c.4257G>A (p.Pro1419=) rs116791394 0.00742
NM_015175.3(NBEAL2):c.7836G>A (p.Gln2612=) rs72909849 0.00728
NM_015175.3(NBEAL2):c.4170G>A (p.Ser1390=) rs139822454 0.00554
NM_002658.6(PLAU):c.-25C>T rs2227579 0.00551
NM_002658.6(PLAU):c.172G>A (p.Gly58Arg) rs55744193 0.00504
NM_002658.6(PLAU):c.1092C>T (p.Asp364=) rs148333167 0.00419
NM_015175.3(NBEAL2):c.123C>G (p.Ser41=) rs61734084 0.00344
NM_015175.3(NBEAL2):c.2356G>A (p.Ala786Thr) rs116104760 0.00338
NM_002658.6(PLAU):c.*444T>A rs145634997 0.00312
NM_002658.6(PLAU):c.-20A>G rs201591610 0.00241
NM_002658.6(PLAU):c.*60A>C rs142117323 0.00177
NM_002658.6(PLAU):c.162A>G (p.Pro54=) rs142059320 0.00165
NM_002658.6(PLAU):c.*520G>T rs117134857 0.00143
NM_015175.3(NBEAL2):c.384C>G (p.Gly128=) rs113523265 0.00121
NM_002658.6(PLAU):c.445C>T (p.His149Tyr) rs117135013 0.00070
NM_002658.6(PLAU):c.878G>A (p.Arg293Gln) rs546931331 0.00068
NM_015175.3(NBEAL2):c.187C>T (p.Leu63=) rs80105480 0.00066
NM_015175.3(NBEAL2):c.6378C>T (p.Ile2126=) rs187781607 0.00061
NM_002658.6(PLAU):c.*355C>T rs140559980 0.00056
NM_002658.6(PLAU):c.*335G>A rs185909762 0.00038
NM_002658.6(PLAU):c.1222G>A (p.Val408Ile) rs200165551 0.00031
NM_015175.3(NBEAL2):c.860A>C (p.Asp287Ala) rs200666191 0.00030
NM_002658.6(PLAU):c.236G>A (p.Arg79Gln) rs201299522 0.00022
NM_002658.6(PLAU):c.581C>T (p.Ala194Val) rs145865648 0.00011
NM_002658.6(PLAU):c.111A>G (p.Gly37=) rs200927138 0.00009
NM_002658.6(PLAU):c.*266T>C rs565576288 0.00008
NM_002658.6(PLAU):c.972C>T (p.Thr324=) rs375950656 0.00008
NM_002658.6(PLAU):c.706A>G (p.Ile236Val) rs150389556 0.00006
NM_002658.6(PLAU):c.*52T>A rs560674195 0.00004
NM_002658.6(PLAU):c.308C>T (p.Thr103Met) rs370278611 0.00004
NM_002658.6(PLAU):c.1053C>T (p.Tyr351=) rs558920700 0.00003
NM_002658.6(PLAU):c.1193G>T (p.Arg398Leu) rs3805118 0.00003
NM_002658.6(PLAU):c.163A>G (p.Lys55Glu) rs147372618 0.00003
NM_015175.3(NBEAL2):c.2231C>T (p.Pro744Leu) rs375744996 0.00002
NM_002658.6(PLAU):c.17C>A (p.Ala6Glu) rs371106595 0.00001
NM_002658.6(PLAU):c.602G>T (p.Arg201Leu) rs549461157 0.00001
NM_002658.6(PLAU):c.*398C>T rs190769030
NM_002658.6(PLAU):c.1048T>C (p.Tyr350His) rs72816325
NM_002658.6(PLAU):c.43G>T (p.Val15Leu) rs2227580
NM_002658.6(PLAU):c.559A>G (p.Ile187Val) rs528761202
NM_002658.6(PLAU):c.830-13T>C rs376665535
NM_015175.3(NBEAL2):c.*104del rs397708574
NM_015175.3(NBEAL2):c.1531C>G (p.Arg511Gly) rs11720139
NM_015175.3(NBEAL2):c.6054C>G (p.Pro2018=) rs1079276

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