ClinVar Miner

List of variants reported as pathogenic by Donald Williams Parsons Laboratory, Baylor College of Medicine

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603 0.00021
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374 0.00006
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_000551.4(VHL):c.499C>T (p.Arg167Trp) rs5030820 0.00001
NM_001211.6(BUB1B):c.1648C>T (p.Arg550Ter) rs767213728 0.00001
NM_177438.3(DICER1):c.2062C>T (p.Arg688Ter) rs886037684 0.00001
NC_012920.1:m.1555A>G rs267606617
NC_012920.1:m.3243A>G rs199474657
NM_000059.4(BRCA2):c.1273_1274del (p.Glu425fs) rs1555281805
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_000251.3(MSH2):c.1692_1693del (p.Lys565_Asn566insTer) rs1553367635
NM_001127898.4(CLCN5):c.1676G>A (p.Trp559Ter) rs1557194353
NM_001943.5(DSG2):c.523+1G>C rs553299589
NM_002778.4(PSAP):c.1369G>T (p.Glu457Ter) rs1554879741
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_003072.5(SMARCA4):c.1155_1157del (p.Glu386del) rs1555756326
NM_003748.4(ALDH4A1):c.866+1G>A rs78532707
NM_004817.4(TJP2):c.813_814del (p.Ala273fs) rs1554660803
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_007194.4(CHEK2):c.1100_1101del (p.Thr367fs) rs1555913934
NM_007294.4(BRCA1):c.68_70del (p.Glu23_Cys24delinsGly) rs1555600876
NM_007294.4(BRCA1):c.697_699del (p.Val233del) rs1555593294
NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys) rs779707422
NM_024426.6(WT1):c.880_882del (p.Tyr294del) rs1554945033

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