ClinVar Miner

List of variants reported as benign by Johns Hopkins Genomics, Johns Hopkins University

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_001451.3(FOXF1):c.645C>T (p.His215=) rs61740819 0.02277
NM_001451.3(FOXF1):c.873C>T (p.Ser291=) rs61753347 0.01583
NM_172245.4(CSF2RA):c.425C>T (p.Pro142Leu) rs151058706 0.01345
NM_001317778.2(SFTPC):c.43-7G>A rs79440568 0.00861
NM_001089.3(ABCA3):c.4165-8G>A rs138769732 0.00766
NM_003664.5(AP3B1):c.2661C>A (p.Phe887Leu) rs139344924 0.00669
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=) rs1800135 0.00660
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_000516.7(GNAS):c.366C>T (p.Pro122=) rs35287986 0.00583
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792 0.00573
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=) rs1800118 0.00570
NM_000542.5(SFTPB):c.847G>A (p.Ala283Thr) rs36210375 0.00524
NM_001218.5(CA12):c.228C>T (p.Phe76=) rs139241902 0.00521
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_000492.4(CFTR):c.1581A>G (p.Glu527=) rs1800094 0.00491
NM_001451.3(FOXF1):c.1083G>A (p.Gly361=) rs112197095 0.00477
NM_001451.3(FOXF1):c.908G>A (p.Ser303Asn) rs200676463 0.00467
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153 0.00463
NM_207361.6(FREM2):c.4031G>A (p.Arg1344His) rs143044921 0.00430
NM_003664.5(AP3B1):c.2880C>T (p.Ala960=) rs62001052 0.00398
NM_022081.6(HPS4):c.250A>G (p.Ile84Val) rs149830675 0.00306
NM_032620.4(GTPBP3):c.1175C>G (p.Pro392Arg) rs149578279 0.00256
NM_000213.5(ITGB4):c.2929C>T (p.Arg977Cys) rs145976111 0.00214
NM_000492.4(CFTR):c.2620-15C>G rs139379077 0.00212
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00182
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) rs150157202 0.00171
NM_000492.4(CFTR):c.1393-42G>A rs34906874 0.00148
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys) rs1800073 0.00134
NM_173494.2(DNAAF6):c.244G>A (p.Glu82Lys) rs147979953 0.00121
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val) rs75789129 0.00119
NM_000492.4(CFTR):c.2620-26A>G rs201716473 0.00108
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530 0.00090
NM_001089.3(ABCA3):c.213C>T (p.Phe71=) rs117515055 0.00088
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) rs35516286 0.00083
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu) rs121909034 0.00068
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112 0.00038
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) rs1800103 0.00034
NM_000492.4(CFTR):c.4243-35del rs193922527
NM_001018111.3(PODXL):c.66GTCGCC[3] (p.24PS[3]) rs11277659
NM_001038.6(SCNN1A):c.540_541delinsTT (p.Arg181Trp) rs876657425
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu) rs141621969
NM_003664.5(AP3B1):c.3020CTG[1] (p.Ala1008del) rs111935323

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