ClinVar Miner

List of variants reported as pathogenic for acute disease by Invitae

Included ClinVar conditions (75):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met) rs121434502 0.00001
NM_004364.5(CEBPA):c.125del (p.Pro42fs) rs2145264339
NM_004364.5(CEBPA):c.168C>A (p.Cys56Ter) rs1967195832
NM_004364.5(CEBPA):c.175G>T (p.Glu59Ter) rs1210600080
NM_004364.5(CEBPA):c.179dup (p.Ser61fs)
NM_004364.5(CEBPA):c.186_190del (p.Asp63fs) rs1060502121
NM_004364.5(CEBPA):c.195_198delinsACG (p.Ser65fs) rs1600023950
NM_004364.5(CEBPA):c.206del (p.Asp69fs) rs1967194243
NM_004364.5(CEBPA):c.320del (p.Asp107fs) rs1600023511
NM_004364.5(CEBPA):c.324C>A (p.Tyr108Ter)
NM_004364.5(CEBPA):c.324C>G (p.Tyr108Ter) rs1555742221
NM_004364.5(CEBPA):c.442G>T (p.Glu148Ter) rs1388478228
NM_004364.5(CEBPA):c.60dup (p.Ser21fs) rs2145264820
NM_004364.5(CEBPA):c.69del (p.His24fs) rs2145264731
NM_030930.4(UNC93B1):c.1038_1041del (p.Phe346fs) rs759883057
NM_030930.4(UNC93B1):c.286G>T (p.Glu96Ter) rs753436679
NM_030930.4(UNC93B1):c.341_351del (p.Gly114fs)
NM_030930.4(UNC93B1):c.668_671del (p.Ile223fs)
NM_030930.4(UNC93B1):c.702C>A (p.Cys234Ter) rs772974041

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