ClinVar Miner

List of variants studied for immune system disorder by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_000066.4(C8B):c.1282C>T (p.Arg428Ter) rs41286844 0.00118
NM_001006658.3(CR2):c.2298G>A (p.Trp766Ter) rs151093663 0.00065
NM_000064.4(C3):c.1873A>T (p.Ile625Phe) rs144432231 0.00023
NM_001006658.3(CR2):c.1931G>A (p.Cys644Tyr) rs149972318 0.00023
NM_001710.6(CFB):c.1407C>G (p.Ile469Met) rs201798809 0.00019
NM_014140.4(SMARCAL1):c.2114C>T (p.Thr705Ile) rs200644381 0.00019
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033 0.00013
NM_000204.5(CFI):c.1709G>C (p.Ser570Thr) rs200973120 0.00008
NM_000204.5(CFI):c.310G>A (p.Gly104Arg) rs200419722 0.00006
NM_000064.4(C3):c.769G>A (p.Ala257Thr) rs200918899 0.00004
NM_001710.6(CFB):c.1374G>A (p.Met458Ile) rs200837114 0.00004
NM_014140.4(SMARCAL1):c.1147+8G>A rs759562755 0.00004
NM_001734.5(C1S):c.733C>T (p.Arg245Trp) rs147971272 0.00003
NM_000135.4(FANCA):c.2778+1G>A rs140180549 0.00002
NM_000186.4(CFH):c.2900G>A (p.Gly967Glu) rs375951438 0.00002
NM_000204.5(CFI):c.205A>G (p.Lys69Glu) rs771325547 0.00002
NM_000064.4(C3):c.322G>A (p.Val108Met) rs747923416 0.00001
NM_000204.5(CFI):c.1165C>T (p.Arg389Cys) rs1292929833 0.00001
NM_000204.5(CFI):c.209A>C (p.Asn70Thr) rs749553820 0.00001
NM_001710.6(CFB):c.118G>A (p.Glu40Lys) rs1271096223 0.00001
NM_001710.6(CFB):c.1217G>A (p.Arg406Gln) rs1057516209 0.00001
NM_001710.6(CFB):c.1861G>A (p.Glu621Lys) rs573842877 0.00001
NM_001710.6(CFB):c.427C>T (p.Arg143Cys) rs1242945827 0.00001
NM_005633.4(SOS1):c.1607A>G (p.Asn536Ser) rs1363908468 0.00001
NM_014140.4(SMARCAL1):c.1384_1389dup (p.Leu462_Gly463dup) rs1553526162 0.00001
NM_000063.6(C2):c.841_849+19del rs9332736
NM_000064.4(C3):c.169_170del (p.Val57fs) rs1568229677
NM_000064.4(C3):c.2061dup (p.Lys688fs) rs1599518940
NM_000064.4(C3):c.2531A>G (p.Gln844Arg) rs1599510478
NM_000064.4(C3):c.3737_3738del (p.Asp1245_Phe1246insTer) rs1568212112
NM_000064.4(C3):c.3908G>A (p.Arg1303His) rs775015499
NM_000186.4(CFH):c.1126C>T (p.Gln376Ter) rs1573026975
NM_000186.4(CFH):c.1318_1327del (p.Pro440fs) rs1558162157
NM_000186.4(CFH):c.1336+4A>G rs1573028051
NM_000186.4(CFH):c.1699A>G (p.Arg567Gly) rs757756991
NM_000186.4(CFH):c.2535dup (p.Gln846fs) rs1573076111
NM_000186.4(CFH):c.2697T>A (p.Tyr899Ter) rs121913057
NM_000186.4(CFH):c.2794A>C (p.Lys932Gln) rs1573079762
NM_000186.4(CFH):c.2950T>C (p.Cys984Arg) rs886039869
NM_000186.4(CFH):c.3134-2A>G rs1300996807
NM_000186.4(CFH):c.3542T>C (p.Leu1181Ser) rs1573087200
NM_000186.4(CFH):c.58G>A (p.Asp20Asn) rs1553270437
NM_000186.4(CFH):c.59-10T>G rs1573008794
NM_000186.4(CFH):c.710_711del (p.Lys236_Cys237insTer) rs1553273733
NM_000204.5(CFI):c.1118G>C (p.Cys373Ser) rs1579173999
NM_000204.5(CFI):c.1160C>T (p.Thr387Ile) rs1373768125
NM_000204.5(CFI):c.1355C>A (p.Ala452Asp) rs1579164519
NM_000204.5(CFI):c.184A>G (p.Lys62Glu) rs1393611407
NM_000204.5(CFI):c.850T>G (p.Cys284Gly) rs1483694585
NM_000361.3(THBD):c.1712C>T (p.Thr571Met) rs1166732867
NM_000587.4(C7):c.2350+1del rs779723422
NM_000587.4(C7):c.317del (p.Asp106fs) rs1579848888
NM_001164277.2(SLC37A4):c.838G>C (p.Ala280Pro) rs1555190969
NM_001737.5(C9):c.1677del (p.Lys559fs) rs762159491
NM_002834.5(PTPN11):c.854-14T>A rs2038526676
NM_004523.4(KIF11):c.2341C>T (p.Gln781Ter) rs1057516208
NM_004523.4(KIF11):c.349G>T (p.Gly117Cys) rs1589590723
NM_005633.4(SOS1):c.848T>C (p.Phe283Ser) rs1572855029
NM_014140.4(SMARCAL1):c.1930C>T (p.Arg644Trp) rs1313658611
NM_014140.4(SMARCAL1):c.2427+1G>A rs1559138455
NM_020964.3(EPG5):c.6752del (p.Val2251fs) rs1057516194
NM_139027.6(ADAMTS13):c.1585-1G>C rs1554789680
NM_139027.6(ADAMTS13):c.3937_4053del (p.Thr1313_Thr1351del) rs1554797078
NM_172351.3(CD46):c.101C>T (p.Ala34Val) rs1571578126
NM_172351.3(CD46):c.404del (p.Gly135fs) rs1571588257
NM_172351.3(CD46):c.542_543del (p.Val180_Phe181insTer) rs1057516191
NM_172351.3(CD46):c.604C>T (p.Leu202Phe) rs750324925
NM_172351.3(CD46):c.685C>T (p.Arg229Ter) rs1553251787
NM_172351.3(CD46):c.714_715del (p.Gln238fs) rs1571616755
NM_172351.3(CD46):c.776del (p.Gly259fs) rs886039868
NM_172351.3(CD46):c.828G>A (p.Trp276Ter) rs1571617647

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