ClinVar Miner

List of variants studied for autoimmune disease by Undiagnosed Diseases Network, NIH

Included ClinVar conditions (85):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.391T>C (p.Tyr131His) rs562847013 0.00027
NM_001114753.3(ENG):c.816+6T>C rs759191907 0.00001
NM_000043.6(FAS):c.197-2A>G rs1564691414
NM_000383.4(AIRE):c.1504-818G>A rs181779633
NM_002693.3(POLG):c.641C>T (p.Ala214Val) rs948866053
NM_004944.4(DNASE1L3):c.179T>G (p.Ile60Ser) rs2097405348
NM_004944.4(DNASE1L3):c.290_291del (p.Thr97fs) rs751206379
NM_139276.3(STAT3):c.1339C>G (p.His447Asp)

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