ClinVar Miner

List of variants reported as pathogenic for Bernard-Soulier syndrome

Included ClinVar conditions (4):
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ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000174.5(GP9):c.182A>G (p.Asn61Ser) rs5030764 0.00076
NM_000173.7(GP1BA):c.434T>C (p.Leu145Pro) rs771048666 0.00013
NM_000174.5(GP9):c.212T>C (p.Phe71Ser) rs121918037 0.00001
NC_000003.12:g.129058767_129062425del
NM_000173.7(GP1BA):c.104del (p.Lys35fs) rs1555549041
NM_000173.7(GP1BA):c.1274_1275del (p.Glu425fs) rs773663190
NM_000173.7(GP1BA):c.1408del (p.Ser470fs)
NM_000173.7(GP1BA):c.1846_1852del (p.Asn616fs)
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.344T>C (p.Leu115Pro) rs1597638598
NM_000173.7(GP1BA):c.376A>G (p.Asn126Asp)
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.58T>G (p.Cys20Gly) rs2151107661
NM_000173.7(GP1BA):c.673T>A (p.Cys225Ser) rs1394634674
NM_000173.7(GP1BA):c.674G>C (p.Cys225Ser) rs2151107940
NM_000173.7(GP1BA):c.987G>A (p.Trp329Ter)
NM_000174.5(GP9):c.-210_*133del (p.Met1fs)
NM_000174.5(GP9):c.284A>G (p.Tyr95Cys) rs1946583076
NM_000174.5(GP9):c.46dup (p.Ala16fs)
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.1A>T (p.Met1Leu) rs1389191920
NM_000407.5(GP1BB):c.22dup (p.Ala8fs)
NM_000407.5(GP1BB):c.317_320dup (p.Glu109fs) rs2145796221
NM_000407.5(GP1BB):c.443G>A (p.Trp148Ter) rs1375840544
NM_000407.5(GP1BB):c.47T>C (p.Leu16Pro) rs1601248210
NM_000407.5(GP1BB):c.500T>C (p.Leu167Pro) rs2145796556

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