ClinVar Miner

List of variants reported as benign for Platelet-type bleeding disorder 9

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ClinVar version:
Total variants: 97
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HGVS dbSNP gnomAD frequency
NM_002203.4(ITGA2):c.*721A>C rs1109527 0.88662
NM_002203.4(ITGA2):c.*3026A>G rs7719848 0.75000
NM_002203.4(ITGA2):c.630+10A>G rs1421933 0.74623
NM_002203.4(ITGA2):c.*894C>T rs1109526 0.74563
NM_002203.4(ITGA2):c.825G>A (p.Thr275=) rs1062535 0.37202
NM_002203.4(ITGA2):c.1312+12T>C rs2303127 0.36561
NM_002203.4(ITGA2):c.759C>T (p.Phe253=) rs1126643 0.36470
NM_002203.4(ITGA2):c.*3986A>C rs7725246 0.35845
NM_002203.4(ITGA2):c.*2940G>A rs6898333 0.34995
NM_002203.4(ITGA2):c.3252C>T (p.Phe1084=) rs2303122 0.34753
NM_002203.4(ITGA2):c.*2999A>G rs6880055 0.31005
NM_004531.5(MOCS2):c.*2158C>T rs17298242 0.20066
NM_004531.5(MOCS2):c.*413del rs3839261 0.15118
NM_002203.4(ITGA2):c.2376C>T (p.Asp792=) rs3212583 0.12027
NM_004531.5(MOCS2):c.*1872C>T rs77227647 0.11611
NM_002203.4(ITGA2):c.2484G>A (p.Thr828=) rs3212327 0.11398
NM_002203.4(ITGA2):c.*3918G>C rs10471829 0.11354
NM_002203.4(ITGA2):c.*2574C>G rs75427194 0.11349
NM_002203.4(ITGA2):c.*3164G>A rs7737412 0.11348
NM_002203.4(ITGA2):c.*1252G>A rs1042324 0.11343
NM_004531.5(MOCS2):c.*2032G>A rs75571463 0.11337
NM_002203.4(ITGA2):c.2568G>A (p.Leu856=) rs3213805 0.11329
NM_002203.4(ITGA2):c.1600G>A (p.Glu534Lys) rs1801106 0.11302
NM_002203.4(ITGA2):c.789T>C (p.Ala263=) rs1139484 0.10712
NM_002203.4(ITGA2):c.993A>G (p.Ala331=) rs3212523 0.10706
NM_004531.5(MOCS2):c.*2415C>T rs16880872 0.10619
NM_002203.4(ITGA2):c.*4098C>G rs10471830 0.10454
NM_002203.4(ITGA2):c.*2939C>T rs7700416 0.10451
NM_002203.4(ITGA2):c.849C>T (p.Asp283=) rs3212521 0.05788
NM_002203.3(ITGA2):c.-124G>A rs3212385 0.05373
NM_002203.4(ITGA2):c.2718G>A (p.Ala906=) rs3212594 0.01020
NM_004531.5(MOCS2):c.*2582A>C rs12518145 0.00995
NM_002203.4(ITGA2):c.*35A>C rs113222066 0.00866
NM_002203.4(ITGA2):c.*2151A>G rs76840527 0.00855
NM_002203.4(ITGA2):c.*4042G>A rs181976027 0.00698
NM_002203.4(ITGA2):c.955G>A (p.Ala319Thr) rs41272301 0.00697
NM_002203.4(ITGA2):c.*3048G>A rs115863238 0.00694
NM_002203.4(ITGA2):c.*208G>A rs190842751 0.00685
NM_004531.5(MOCS2):c.*1913G>A rs193054707 0.00676
NM_002203.4(ITGA2):c.*29G>A rs13173706 0.00653
NM_002203.4(ITGA2):c.3379A>C (p.Lys1127Gln) rs3212645 0.00622
NM_002203.4(ITGA2):c.*3398T>G rs137861998 0.00614
NM_002203.4(ITGA2):c.*682A>G rs3212650 0.00495
NM_002203.4(ITGA2):c.756A>C (p.Thr252=) rs61737774 0.00421
NM_002203.4(ITGA2):c.2674A>C (p.Thr892Pro) rs116473481 0.00402
NM_002203.4(ITGA2):c.*462A>C rs182541283 0.00385
NM_002203.4(ITGA2):c.1807-6T>C rs3212555 0.00346
NM_002203.4(ITGA2):c.2678T>C (p.Ile893Thr) rs80331976 0.00345
NM_002203.4(ITGA2):c.-13G>A rs143667535 0.00321
NM_002203.4(ITGA2):c.*2521A>C rs79488788 0.00259
NM_002203.4(ITGA2):c.517A>G (p.Ile173Val) rs55973669 0.00232
NM_002203.4(ITGA2):c.227G>A (p.Arg76Gln) rs143262642 0.00226
NM_002203.4(ITGA2):c.3021T>G (p.Thr1007=) rs55980302 0.00173
NM_002203.4(ITGA2):c.*2075A>G rs188770677 0.00136
NM_002203.4(ITGA2):c.*2716C>G rs149715267 0.00123
NM_002203.4(ITGA2):c.3154A>T (p.Thr1052Ser) rs150997093 0.00117
NM_004531.5(MOCS2):c.*2045G>A rs577647122 0.00111
NM_002203.4(ITGA2):c.*3310T>G rs557257907 0.00087
NM_002203.4(ITGA2):c.*1635A>G rs192927707 0.00066
NM_002203.4(ITGA2):c.2742-4A>G rs41272305 0.00052
NM_002203.4(ITGA2):c.*707G>C rs191591133 0.00049
NM_002203.4(ITGA2):c.2483C>T (p.Thr828Met) rs79932422 0.00045
NM_002203.4(ITGA2):c.633G>A (p.Val211=) rs26675 0.00042
NM_002203.4(ITGA2):c.327G>A (p.Met109Ile) rs188816090 0.00039
NM_002203.4(ITGA2):c.*1749T>C rs548494960 0.00038
NM_002203.4(ITGA2):c.*2064C>T rs201170451 0.00036
NM_002203.4(ITGA2):c.1638C>T (p.Pro546=) rs199602142 0.00036
NM_002203.4(ITGA2):c.2377G>A (p.Gly793Arg) rs118190231 0.00013
NM_002203.4(ITGA2):c.*1915G>A rs140728831 0.00011
NM_002203.4(ITGA2):c.*3889A>G rs530007169 0.00011
NM_002203.4(ITGA2):c.3034G>A (p.Asp1012Asn) rs199575892 0.00011
NM_002203.4(ITGA2):c.3518T>C (p.Ile1173Thr) rs200155411 0.00011
NM_002203.4(ITGA2):c.11A>G (p.Glu4Gly) rs559975113 0.00009
NM_002203.4(ITGA2):c.2429A>G (p.Gln810Arg) rs191616009 0.00009
NM_002203.4(ITGA2):c.3324T>C (p.Tyr1108=) rs772014693 0.00006
NM_002203.4(ITGA2):c.996C>T (p.Ile332=) rs577503636 0.00004
NM_002203.4(ITGA2):c.268G>A (p.Ala90Thr) rs200476815 0.00003
NM_002203.4(ITGA2):c.871A>T (p.Met291Leu) rs41377544 0.00003
NM_002203.4(ITGA2):c.*2198T>C rs540698536 0.00002
NM_002203.4(ITGA2):c.123C>T (p.Ser41=) rs140852048 0.00002
NM_002203.4(ITGA2):c.*1825T>C rs570965140 0.00001
NM_002203.4(ITGA2):c.636G>T (p.Gly212=) rs373539496 0.00001
NM_002203.4(ITGA2):c.*2041del rs35863692
NM_002203.4(ITGA2):c.*2505CAAA[3] rs72277253
NM_002203.4(ITGA2):c.*2570C>T rs1900182
NM_002203.4(ITGA2):c.*2723G>C rs145580223
NM_002203.4(ITGA2):c.*3385_*3386insGAAA rs59915734
NM_002203.4(ITGA2):c.*3763_*3764del rs145759303
NM_002203.4(ITGA2):c.*4045AGT[1] rs71727762
NM_002203.4(ITGA2):c.*475_*477del rs199677547
NM_002203.4(ITGA2):c.*760_*761insTTAT rs3212652
NM_002203.4(ITGA2):c.1141G>A (p.Val381Met) rs541732593
NM_002203.4(ITGA2):c.1372C>T (p.Arg458Trp) rs377150294
NM_002203.4(ITGA2):c.1602+3A>G rs201610232
NM_002203.4(ITGA2):c.2099T>C (p.Ile700Thr) rs530127630
NM_002203.4(ITGA2):c.2236-62T>C rs2287871
NM_002203.4(ITGA2):c.3003C>A (p.Asn1001Lys) rs144334272

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