ClinVar Miner

List of variants in gene GP1BA studied for Bernard-Soulier syndrome

Included ClinVar conditions (4):
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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_000173.7(GP1BA):c.1322_1344del (p.Ser441fs) rs770089708 0.39537
NM_000173.7(GP1BA):c.106A>G (p.Arg36Gly) rs111292798 0.00526
NM_000173.7(GP1BA):c.206C>T (p.Pro69Leu) rs138825640 0.00175
NM_000173.7(GP1BA):c.92T>C (p.Val31Ala) rs201827537 0.00078
NM_000173.7(GP1BA):c.434T>C (p.Leu145Pro) rs771048666 0.00013
NM_000173.7(GP1BA):c.256C>T (p.Leu86Phe) rs13306411 0.00007
NM_000173.7(GP1BA):c.137C>T (p.Pro46Leu) rs760759446 0.00003
NM_000173.7(GP1BA):c.658G>A (p.Gly220Arg) rs374928728 0.00002
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_000173.7(GP1BA):c.586C>T (p.Gln196Ter) rs371226354 0.00001
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.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.376A>G (p.Asn126Asp)
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.987G>A (p.Trp329Ter)
NM_000173.7(GP1BA):c.98G>A (p.Cys33Tyr) rs1597638300

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