ClinVar Miner

List of variants studied for autoimmune disease by Department of Molecular Biology and Genetics, Acibadem University

Included ClinVar conditions (89):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001723.7(DST):c.3809A>G (p.Lys1270Arg) rs35497571 0.02037
NM_201384.3(PLEC):c.3869A>G (p.Lys1290Arg) rs200895043 0.00541
NM_001723.7(DST):c.3336G>C (p.Glu1112Asp) rs34767818 0.00349
NM_201384.3(PLEC):c.4651C>T (p.Arg1551Cys) rs2857824 0.00301
NM_002291.3(LAMB1):c.476C>G (p.Thr159Ser) rs140146478 0.00233
NM_001378452.1(ITPR1):c.5621T>G (p.Val1874Gly) rs143093165 0.00213
NM_001723.7(DST):c.25C>T (p.Arg9Cys) rs75671065 0.00193
NM_000213.5(ITGB4):c.1924G>A (p.Glu642Lys) rs200371855 0.00068
NM_201384.3(PLEC):c.7951C>T (p.Arg2651Trp) rs145977158 0.00062
NM_201384.3(PLEC):c.13247C>T (p.Thr4416Met) rs201855218 0.00018
NM_005560.6(LAMA5):c.5512C>T (p.Arg1838Trp) rs200449284 0.00015
NM_201384.3(PLEC):c.12992C>T (p.Pro4331Leu) rs199651668 0.00014
NM_001374736.1(DST):c.14495A>G (p.Glu4832Gly) rs201437391 0.00008
NM_001374736.1(DST):c.13499T>C (p.Leu4500Pro) rs758532940 0.00006
NM_001374736.1(DST):c.15406T>G (p.Leu5136Val) rs750727762 0.00001
NM_001374736.1(DST):c.4322A>G (p.His1441Arg)
NM_002291.3(LAMB1):c.2383C>T (p.Arg795Trp)
NM_005560.6(LAMA5):c.4106G>A (p.Arg1369Gln)
NM_133493.5(CD109):c.1709C>T (p.Pro570Leu)
NM_201384.3(PLEC):c.12736C>T (p.Arg4246Cys)
NM_201384.3(PLEC):c.3160C>A (p.Pro1054Thr)
NM_201384.3(PLEC):c.934G>T (p.Glu312Ter)

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