ClinVar Miner

List of variants studied for Bernard-Soulier syndrome

Included ClinVar conditions (4):
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ClinVar version:
Total variants: 118
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HGVS dbSNP gnomAD frequency
NM_000173.7(GP1BA):c.1322_1344del (p.Ser441fs) rs770089708 0.39537
NM_000174.5(GP9):c.132G>A (p.Thr44=) rs6069 0.03533
NM_000174.5(GP9):c.*7C>T rs115005114 0.02870
NM_000174.5(GP9):c.466G>A (p.Ala156Thr) rs3796130 0.01277
NM_000173.7(GP1BA):c.106A>G (p.Arg36Gly) rs111292798 0.00526
NM_000174.5(GP9):c.-87T>C rs146474708 0.00459
NM_000407.5(GP1BB):c.389C>T (p.Pro130Leu) rs547921381 0.00302
NM_000173.7(GP1BA):c.206C>T (p.Pro69Leu) rs138825640 0.00175
NM_000174.5(GP9):c.-124C>T rs144100272 0.00161
NM_000407.5(GP1BB):c.119G>A (p.Gly40Glu) rs375285857 0.00115
NM_000174.5(GP9):c.*38C>T rs774275281 0.00102
NM_000174.5(GP9):c.368C>T (p.Pro123Leu) rs202229101 0.00089
NM_000173.7(GP1BA):c.92T>C (p.Val31Ala) rs201827537 0.00078
NM_000174.5(GP9):c.182A>G (p.Asn61Ser) rs5030764 0.00076
NM_000173.7(GP1BA):c.1845_1849del (p.Asn616fs) rs772106076 0.00053
NM_000174.5(GP9):c.236C>T (p.Thr79Ile) rs200640594 0.00046
NM_000174.5(GP9):c.445T>C (p.Leu149=) rs144345517 0.00041
NM_000174.5(GP9):c.-78C>A rs886057960 0.00031
NM_000407.5(GP1BB):c.143C>T (p.Ser48Leu) rs536874549 0.00027
NM_000407.5(GP1BB):c.215C>T (p.Pro72Leu) rs755380704 0.00020
NM_000174.5(GP9):c.203C>T (p.Pro68Leu) rs145472050 0.00015
NM_000173.7(GP1BA):c.434T>C (p.Leu145Pro) rs771048666 0.00013
NM_000174.5(GP9):c.423G>A (p.Ala141=) rs553559631 0.00011
NM_000173.7(GP1BA):c.1761A>C (p.Gln587His) rs570515282 0.00010
NM_000174.5(GP9):c.-128C>T rs554290942 0.00009
NM_000174.5(GP9):c.131C>T (p.Thr44Met) rs750293970 0.00009
NM_000174.5(GP9):c.334C>T (p.Arg112Cys) rs200489927 0.00009
NM_000173.7(GP1BA):c.256C>T (p.Leu86Phe) rs13306411 0.00007
NM_000174.5(GP9):c.-16G>T rs886057963 0.00005
NM_000174.5(GP9):c.123C>T (p.His41=) rs201755437 0.00005
NM_000174.5(GP9):c.18C>T (p.Ala6=) rs200376043 0.00004
NM_000173.7(GP1BA):c.137C>T (p.Pro46Leu) rs760759446 0.00003
NM_000174.5(GP9):c.438G>A (p.Pro146=) rs767278544 0.00003
NM_000174.5(GP9):c.533G>A (p.Ter178=) rs566144272 0.00003
NM_000173.7(GP1BA):c.1283C>G (p.Ser428Ter) rs1375190381 0.00001
NM_000173.7(GP1BA):c.247C>T (p.Leu83Phe) rs767224320 0.00001
NM_000174.5(GP9):c.212T>C (p.Phe71Ser) rs121918037 0.00001
NM_000174.5(GP9):c.501C>G (p.Gly167=) rs886057964 0.00001
NM_000407.5(GP1BB):c.268C>T (p.Pro90Ser) rs1197982563 0.00001
NC_000003.12:g.129058767_129062425del
NM_000173.7(GP1BA):c.104del (p.Lys35fs) rs1555549041
NM_000173.7(GP1BA):c.1108A>G (p.Ile370Val)
NM_000173.7(GP1BA):c.1233_1349del (p.Ser415_Thr453del)
NM_000173.7(GP1BA):c.1274_1275del (p.Glu425fs) rs773663190
NM_000173.7(GP1BA):c.1282_1359del (p.415_427SEPAPSPTTPEPT[1]) rs869060239
NM_000173.7(GP1BA):c.1408del (p.Ser470fs)
NM_000173.7(GP1BA):c.1436del (p.Phe478_Leu479insTer) rs1172767977
NM_000173.7(GP1BA):c.1480del (p.Thr494fs) rs759573909
NM_000173.7(GP1BA):c.1601_1602del (p.Tyr534fs) rs763978422
NM_000173.7(GP1BA):c.1655T>A (p.Leu552Gln)
NM_000173.7(GP1BA):c.169A>G (p.Asn57Asp) rs2151107705
NM_000173.7(GP1BA):c.1845_1848del (p.Asn616fs) rs2151108738
NM_000173.7(GP1BA):c.1846_1852del (p.Asn616fs)
NM_000173.7(GP1BA):c.191T>C (p.Leu64Pro) rs2151107711
NM_000173.7(GP1BA):c.1951dup (p.Ser651fs) rs1597640885
NM_000173.7(GP1BA):c.217C>T (p.Leu73Phe) rs121908063
NM_000173.7(GP1BA):c.241T>C (p.Cys81Arg) rs781541857
NM_000173.7(GP1BA):c.251_253del (p.Thr84del) rs2151107745
NM_000173.7(GP1BA):c.334G>C (p.Gly112Arg)
NM_000173.7(GP1BA):c.344T>C (p.Leu115Pro) rs1597638598
NM_000173.7(GP1BA):c.449A>G (p.Asn150Ser) rs1597638745
NM_000173.7(GP1BA):c.463C>G (p.Leu155Val) rs2151107851
NM_000173.7(GP1BA):c.499G>T (p.Glu167Ter) rs753768072
NM_000173.7(GP1BA):c.515C>T (p.Ala172Val) rs121908065
NM_000173.7(GP1BA):c.520A>G (p.Asn174Asp)
NM_000173.7(GP1BA):c.58T>G (p.Cys20Gly) rs2151107661
NM_000173.7(GP1BA):c.638T>C (p.Leu213Pro)
NM_000173.7(GP1BA):c.657C>A (p.His219Gln) rs574742436
NM_000173.7(GP1BA):c.673T>A (p.Cys225Ser) rs1394634674
NM_000173.7(GP1BA):c.673T>C (p.Cys225Arg) rs1394634674
NM_000173.7(GP1BA):c.674G>C (p.Cys225Ser) rs2151107940
NM_000173.7(GP1BA):c.694T>A (p.Phe232Ile)
NM_000173.7(GP1BA):c.92T>A (p.Val31Glu)
NM_000173.7(GP1BA):c.97T>C (p.Cys33Arg) rs2151107674
NM_000173.7(GP1BA):c.98G>A (p.Cys33Tyr) rs1597638300
NM_000174.4(GP9):c.*143dupT rs11404362
NM_000174.5(GP9):c.*51C>T rs1946590225
NM_000174.5(GP9):c.-13+2T>C rs1357144982
NM_000174.5(GP9):c.-138-3C>G rs182464550
NM_000174.5(GP9):c.-210_*133del (p.Met1fs)
NM_000174.5(GP9):c.-30T>C rs886057962
NM_000174.5(GP9):c.-39G>A rs886057961
NM_000174.5(GP9):c.259T>C (p.Trp87Arg) rs766253334
NM_000174.5(GP9):c.284A>G (p.Tyr95Cys) rs1946583076
NM_000174.5(GP9):c.289C>T (p.Arg97Cys)
NM_000174.5(GP9):c.341C>T (p.Ala114Val) rs896687623
NM_000174.5(GP9):c.404G>T (p.Cys135Phe) rs769561588
NM_000174.5(GP9):c.429G>A (p.Trp143Ter)
NM_000174.5(GP9):c.524C>T (p.Ala175Val) rs760283361
NM_000174.5(GP9):c.70T>C (p.Cys24Arg) rs28933378
NM_000174.5(GP9):c.8_11dup (p.Trp4fs)
NM_000407.5(GP1BB):c.124_145del (p.Arg42fs)
NM_000407.5(GP1BB):c.137G>A (p.Trp46Ter) rs121909752
NM_000407.5(GP1BB):c.148C>A (p.Pro50Thr)
NM_000407.5(GP1BB):c.170C>T (p.Thr57Ile)
NM_000407.5(GP1BB):c.1A>T (p.Met1Leu) rs1389191920
NM_000407.5(GP1BB):c.22dup (p.Ala8fs)
NM_000407.5(GP1BB):c.236_244del (p.Pro79_Leu81del) rs1601248578
NM_000407.5(GP1BB):c.240_246dup (p.Thr83fs)
NM_000407.5(GP1BB):c.242T>G (p.Leu81Arg) rs2145796108
NM_000407.5(GP1BB):c.272G>A (p.Trp91Ter)
NM_000407.5(GP1BB):c.278G>A (p.Cys93Tyr)
NM_000407.5(GP1BB):c.2T>C (p.Met1Thr)
NM_000407.5(GP1BB):c.317_320dup (p.Glu109fs) rs2145796221
NM_000407.5(GP1BB):c.343G>T (p.Asp115Tyr)
NM_000407.5(GP1BB):c.400G>A (p.Glu134Lys) rs2145796377
NM_000407.5(GP1BB):c.406G>T (p.Glu136Ter) rs953345181
NM_000407.5(GP1BB):c.410T>C (p.Leu137Pro) rs1601248889
NM_000407.5(GP1BB):c.423C>A (p.Cys141Ter) rs1402804629
NM_000407.5(GP1BB):c.436C>T (p.Leu146Phe)
NM_000407.5(GP1BB):c.443G>A (p.Trp148Ter) rs1375840544
NM_000407.5(GP1BB):c.462_511del (p.Gln154fs)
NM_000407.5(GP1BB):c.47T>C (p.Leu16Pro) rs1601248210
NM_000407.5(GP1BB):c.491dup (p.His164fs)
NM_000407.5(GP1BB):c.500T>C (p.Leu167Pro) rs2145796556
NM_000407.5(GP1BB):c.505_516dup (p.Val169_Leu172dup) rs1601249021
NM_000407.5(GP1BB):c.536_545del (p.Arg179fs)
NM_000407.5(GP1BB):c.80C>T (p.Pro27Leu) rs2145795850

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