ClinVar Miner

List of variants studied for bronchial disorder by Illumina Laboratory Services, Illumina

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 146
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HGVS dbSNP gnomAD frequency
NM_001038.6(SCNN1A):c.1987A>G (p.Thr663Ala) rs2228576 0.75229
NM_000336.3(SCNN1B):c.279T>C (p.Pro93=) rs238547 0.66128
NM_001038.6(SCNN1A):c.-93A>G rs10849447 0.66126
NM_001038.6(SCNN1A):c.1000G>A (p.Ala334Thr) rs11542844 0.17402
NM_000336.3(SCNN1B):c.879C>T (p.Phe293=) rs250563 0.10382
NM_000336.3(SCNN1B):c.1325G>T (p.Gly442Val) rs1799980 0.03941
NM_001038.6(SCNN1A):c.-55+5G>C rs13306617 0.03104
NM_001038.6(SCNN1A):c.1853G>T (p.Cys618Phe) rs3741913 0.02955
NM_000336.3(SCNN1B):c.1467-14G>A rs34618783 0.02274
NM_001038.6(SCNN1A):c.540G>T (p.Leu180=) rs55859427 0.01886
NM_001038.6(SCNN1A):c.*633G>T rs62618735 0.01803
NM_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg) rs5742912 0.01653
NM_001038.6(SCNN1A):c.978C>T (p.Asn326=) rs61731141 0.01509
NM_001038.5(SCNN1A):c.-155G>A rs72645137 0.01427
NM_001038.6(SCNN1A):c.99C>T (p.Pro33=) rs13306619 0.00986
NM_000336.3(SCNN1B):c.1162C>T (p.Arg388Cys) rs61729788 0.00962
NM_001038.6(SCNN1A):c.*296C>T rs55981728 0.00844
NM_001038.6(SCNN1A):c.*914A>G rs62619209 0.00770
NM_001038.6(SCNN1A):c.*70T>C rs72657538 0.00731
NM_001038.6(SCNN1A):c.-48A>G rs150809388 0.00712
NM_001038.6(SCNN1A):c.-28T>C rs61759919 0.00673
NM_000336.3(SCNN1B):c.282C>T (p.Ala94=) rs139950628 0.00551
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153 0.00463
NM_001038.6(SCNN1A):c.684+9C>T rs111317117 0.00378
NM_001038.6(SCNN1A):c.*920C>T rs72657532 0.00349
NM_001065.4(TNFRSF1A):c.-96C>T rs115164694 0.00312
NM_000336.3(SCNN1B):c.777-5T>C rs61759915 0.00311
NM_000336.3(SCNN1B):c.1401C>T (p.Ser467=) rs74012901 0.00290
NM_001038.5(SCNN1A):c.-186C>T rs72645139 0.00258
NM_000336.3(SCNN1B):c.1883T>A (p.Leu628Gln) rs72654356 0.00186
NM_000336.3(SCNN1B):c.1765G>A (p.Gly589Ser) rs61759926 0.00180
NM_000336.3(SCNN1B):c.1545C>T (p.Ile515=) rs61759916 0.00155
NM_000336.3(SCNN1B):c.466C>T (p.Arg156Trp) rs139310448 0.00132
NM_000336.3(SCNN1B):c.1887C>T (p.Asp629=) rs61759917 0.00123
NM_001038.6(SCNN1A):c.-55+2T>C rs772498945 0.00122
NM_001038.6(SCNN1A):c.*113C>T rs62620999 0.00121
NM_001038.6(SCNN1A):c.-54-14C>T rs61758858 0.00091
NM_001038.6(SCNN1A):c.1935C>T (p.Ala645=) rs370406973 0.00083
NM_001038.6(SCNN1A):c.*467C>A rs140681881 0.00081
NM_001038.6(SCNN1A):c.1484C>T (p.Ser495Leu) rs148749888 0.00078
NM_000336.3(SCNN1B):c.1782G>A (p.Thr594=) rs13306628 0.00063
NM_000336.3(SCNN1B):c.1270+14C>T rs141909058 0.00051
NM_000336.3(SCNN1B):c.1706C>T (p.Ala569Val) rs140927806 0.00051
NM_000336.3(SCNN1B):c.1346+8C>T rs200714599 0.00046
NM_000336.3(SCNN1B):c.*241G>A rs529644900 0.00040
NM_000336.3(SCNN1B):c.*278C>T rs549628659 0.00038
NM_001038.6(SCNN1A):c.126G>A (p.Thr42=) rs138995556 0.00036
NM_001038.6(SCNN1A):c.840C>T (p.Phe280=) rs139335335 0.00036
NM_001038.6(SCNN1A):c.876-13C>T rs201235216 0.00033
NM_001038.6(SCNN1A):c.1216C>A (p.Leu406Ile) rs149484264 0.00029
NM_000336.3(SCNN1B):c.1764T>C (p.Phe588=) rs762486495 0.00024
NM_000336.3(SCNN1B):c.1686A>G (p.Leu562=) rs541449814 0.00023
NM_000336.2(SCNN1B):c.-150C>G rs530631658 0.00022
NM_001038.6(SCNN1A):c.1485G>T (p.Ser495=) rs3764873 0.00022
NM_001038.6(SCNN1A):c.1559G>C (p.Gly520Ala) rs72657550 0.00022
NM_001065.4(TNFRSF1A):c.-233C>T rs45537340 0.00022
NM_001038.6(SCNN1A):c.*352A>G rs72657536 0.00021
NM_001038.6(SCNN1A):c.*727A>G rs549856051 0.00020
NM_001038.6(SCNN1A):c.1554-6C>T rs376456435 0.00020
NM_000336.3(SCNN1B):c.1221A>G (p.Pro407=) rs2303156 0.00019
NM_001038.5(SCNN1A):c.-156C>T rs72645138 0.00019
NM_001038.6(SCNN1A):c.*509T>G rs150966071 0.00019
NM_001038.6(SCNN1A):c.-59G>C rs72645135 0.00019
NM_001038.6(SCNN1A):c.1497+6G>C rs144275086 0.00019
NM_001038.6(SCNN1A):c.1520C>T (p.Ser507Leu) rs148959452 0.00019
NM_000336.3(SCNN1B):c.*94G>A rs72654359 0.00018
NM_000336.3(SCNN1B):c.1694G>A (p.Arg565Gln) rs13306627 0.00018
NM_000336.3(SCNN1B):c.1257C>T (p.Asp419=) rs2303155 0.00016
NM_000336.3(SCNN1B):c.1790G>A (p.Arg597His) rs140945152 0.00016
NM_000336.3(SCNN1B):c.1757C>T (p.Thr586Ile) rs147926991 0.00014
NM_001038.6(SCNN1A):c.*4G>A rs557017986 0.00014
NM_001038.6(SCNN1A):c.*542G>A rs920293100 0.00012
NM_000336.3(SCNN1B):c.1376T>C (p.Met459Thr) rs201369319 0.00011
NM_000336.3(SCNN1B):c.*20G>A rs755277136 0.00010
NM_001038.6(SCNN1A):c.1686G>A (p.Ser562=) rs199526819 0.00010
NM_000336.3(SCNN1B):c.1789C>T (p.Arg597Cys) rs373718332 0.00009
NM_000336.3(SCNN1B):c.586-15T>C rs371098444 0.00009
NM_001038.6(SCNN1A):c.746G>A (p.Arg249Lys) rs142409152 0.00009
NM_000336.3(SCNN1B):c.467G>A (p.Arg156Gln) rs765336896 0.00008
NM_000336.3(SCNN1B):c.1229G>A (p.Arg410His) rs200966246 0.00007
NM_000336.3(SCNN1B):c.1514G>A (p.Arg505His) rs138784278 0.00007
NM_001038.6(SCNN1A):c.1394C>T (p.Ser465Phe) rs369382063 0.00007
NM_000336.3(SCNN1B):c.1005C>T (p.Tyr335=) rs13306633 0.00006
NM_000336.3(SCNN1B):c.428C>T (p.Ser143Phe) rs199810483 0.00006
NM_000336.3(SCNN1B):c.6C>T (p.His2=) rs564570566 0.00006
NM_000336.3(SCNN1B):c.918C>T (p.Tyr306=) rs374264520 0.00006
NM_001038.6(SCNN1A):c.*114G>A rs886049756 0.00006
NM_001038.6(SCNN1A):c.*468C>T rs1336335704 0.00006
NM_001038.6(SCNN1A):c.-69C>T rs545108113 0.00006
NM_001038.6(SCNN1A):c.1299C>T (p.Tyr433=) rs375712066 0.00005
NM_000336.3(SCNN1B):c.1713C>T (p.Tyr571=) rs758251652 0.00004
NM_000336.3(SCNN1B):c.1900G>C (p.Asp634His) rs776613953 0.00004
NM_000336.3(SCNN1B):c.246C>T (p.Ser82=) rs757137077 0.00004
NM_001038.6(SCNN1A):c.*69A>G rs1230500939 0.00004
NM_001038.6(SCNN1A):c.1766G>A (p.Arg589Gln) rs775290860 0.00004
NM_001038.6(SCNN1A):c.1805C>T (p.Ala602Val) rs751903373 0.00004
NM_000336.3(SCNN1B):c.1404+7C>T rs1485041245 0.00003
NM_000336.3(SCNN1B):c.617G>A (p.Arg206Gln) rs201279350 0.00003
NM_001038.6(SCNN1A):c.1177G>A (p.Asp393Asn) rs886049758 0.00003
NM_001038.6(SCNN1A):c.1771C>T (p.Arg591Ter) rs771949339 0.00003
NM_001065.4(TNFRSF1A):c.-74G>A rs200084924 0.00003
NM_000336.3(SCNN1B):c.*187G>A rs886051816 0.00002
NM_001038.6(SCNN1A):c.1241A>G (p.Gln414Arg) rs886049757 0.00002
NM_001038.6(SCNN1A):c.1801G>C (p.Gly601Arg) rs755287192 0.00002
NM_001038.6(SCNN1A):c.319G>A (p.Gly107Arg) rs144763378 0.00002
NM_000336.3(SCNN1B):c.109G>A (p.Gly37Ser) rs137852706 0.00001
NM_000336.3(SCNN1B):c.1199A>G (p.Asn400Ser) rs768729700 0.00001
NM_000336.3(SCNN1B):c.1419C>T (p.His473=) rs193211556 0.00001
NM_000336.3(SCNN1B):c.159C>T (p.Phe53=) rs749106839 0.00001
NM_000336.3(SCNN1B):c.561C>T (p.His187=) rs773448523 0.00001
NM_000336.3(SCNN1B):c.753C>T (p.Phe251=) rs748167291 0.00001
NM_001038.6(SCNN1A):c.*180T>C rs1045767188 0.00001
NM_001038.6(SCNN1A):c.*590C>G rs886049753 0.00001
NM_001038.6(SCNN1A):c.*666T>C rs891843136 0.00001
NM_001038.6(SCNN1A):c.*736T>G rs886049752 0.00001
NM_001038.6(SCNN1A):c.1048C>G (p.Arg350Gly) rs181065138 0.00001
NM_001038.6(SCNN1A):c.417-15C>T rs1366336758 0.00001
NM_001038.6(SCNN1A):c.648G>A (p.Gln216=) rs780536807 0.00001
NM_001038.6(SCNN1A):c.777C>G (p.Ile259Met) rs866913999 0.00001
NM_001038.6(SCNN1A):c.826G>T (p.Gly276Cys) rs759933475 0.00001
NM_001038.6(SCNN1A):c.944A>G (p.Asn315Ser) rs886049759 0.00001
NM_000336.3(SCNN1B):c.*446C>A rs1452320359
NM_000336.3(SCNN1B):c.1069C>A (p.Pro357Thr) rs932297365
NM_000336.3(SCNN1B):c.1270+11G>T rs369905217
NM_000336.3(SCNN1B):c.1271-10T>C rs886051814
NM_000336.3(SCNN1B):c.1336G>A (p.Glu446Lys) rs1962919047
NM_000336.3(SCNN1B):c.1404+15G>A rs886051815
NM_000336.3(SCNN1B):c.1560G>A (p.Ser520=) rs146440372
NM_000336.3(SCNN1B):c.1560G>C (p.Ser520=) rs146440372
NM_000336.3(SCNN1B):c.1745T>A (p.Val582Glu) rs1963026711
NM_000336.3(SCNN1B):c.748C>G (p.Leu250Val) rs1962399992
NM_000336.3(SCNN1B):c.776+9C>A rs1962401157
NM_001038.6(SCNN1A):c.*1012TGTT[1] rs796798913
NM_001038.6(SCNN1A):c.*1020G>T rs1565473402
NM_001038.6(SCNN1A):c.*386G>A rs1948277951
NM_001038.6(SCNN1A):c.*415C>T rs886049755
NM_001038.6(SCNN1A):c.*580A>C rs886049754
NM_001038.6(SCNN1A):c.-54-13G>A rs573341191
NM_001038.6(SCNN1A):c.1073A>G (p.Glu358Gly) rs569195112
NM_001038.6(SCNN1A):c.1361G>A (p.Gly454Glu) rs72657557
NM_001038.6(SCNN1A):c.147C>T (p.Ile49=) rs200770604
NM_001038.6(SCNN1A):c.1491A>G (p.Thr497=) rs1948324086
NM_001038.6(SCNN1A):c.1717G>A (p.Val573Ile) rs59142484
NM_001038.6(SCNN1A):c.2004G>T (p.Gly668=) rs539360032
NM_001038.6(SCNN1A):c.541C>T (p.Arg181Trp) rs55797039
NM_001038.6(SCNN1A):c.74A>G (p.Lys25Arg) rs768767909

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