ClinVar Miner

List of variants reported as likely pathogenic for Omenn syndrome by Baylor Genetics

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000536.4(RAG2):c.1332C>G (p.Ile444Met) rs1564995662
NM_001033855.3(DCLRE1C):c.1238del (p.Pro413fs)
NM_001033855.3(DCLRE1C):c.1265C>A (p.Ser422Ter) rs1354336544
NM_001033855.3(DCLRE1C):c.1319_1320del (p.Cys440fs)
NM_001033855.3(DCLRE1C):c.1324C>T (p.Gln442Ter)
NM_001033855.3(DCLRE1C):c.1442del (p.Lys481fs) rs2131776743
NM_001033855.3(DCLRE1C):c.1442dup (p.Ala482fs)
NM_001033855.3(DCLRE1C):c.1492dup (p.Glu498fs) rs1588893751
NM_001033855.3(DCLRE1C):c.1539_1540del (p.Gly515fs)
NM_001033855.3(DCLRE1C):c.1574_1575del (p.Asp524_Ser525insTer)
NM_001033855.3(DCLRE1C):c.1696_1699dup (p.Ser567fs)
NM_001033855.3(DCLRE1C):c.1749dup (p.Glu584fs)
NM_001033855.3(DCLRE1C):c.1777C>T (p.Gln593Ter)
NM_001033855.3(DCLRE1C):c.1784dup (p.Ile596fs)
NM_001033855.3(DCLRE1C):c.1789del (p.Cys597fs) rs759377639
NM_001033855.3(DCLRE1C):c.1797_1818dup (p.Ser607delinsGlyTyrLeuLeuTer)
NM_001033855.3(DCLRE1C):c.1803_1804dup (p.Tyr602fs)
NM_001033855.3(DCLRE1C):c.1830del (p.Asp611fs)
NM_001033855.3(DCLRE1C):c.184_191del (p.Ser62fs)
NM_001033855.3(DCLRE1C):c.246+2T>G
NM_001033855.3(DCLRE1C):c.274dup (p.Gln92fs)
NM_001033855.3(DCLRE1C):c.306+2T>A rs2131026813
NM_001033855.3(DCLRE1C):c.310_313del rs2130974126
NM_001033855.3(DCLRE1C):c.330_331del (p.Leu111fs)
NM_001033855.3(DCLRE1C):c.416T>A (p.Leu139Ter)
NM_001033855.3(DCLRE1C):c.464+2T>C
NM_001033855.3(DCLRE1C):c.465-2A>C rs1839625956
NM_001033855.3(DCLRE1C):c.488_491del (p.Tyr163fs)
NM_001033855.3(DCLRE1C):c.671del (p.Gly224fs) rs1407251815
NM_001033855.3(DCLRE1C):c.676C>T (p.Gln226Ter)
NM_001033855.3(DCLRE1C):c.678+1G>A
NM_001033855.3(DCLRE1C):c.716del (p.Pro239fs)
NM_001033855.3(DCLRE1C):c.754C>T (p.Gln252Ter) rs1589050343
NM_001033855.3(DCLRE1C):c.95C>T (p.Ser32Phe) rs969498121

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