ClinVar Miner

List of variants reported as uncertain significance for autoinflammatory syndrome of childhood by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (49):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_022168.4(IFIH1):c.2242G>A (p.Gly748Arg) rs764553894 0.00001
NM_001111.5(ADAR):c.1339G>A (p.Val447Ile)
NM_001282225.2(ADA2):c.1334T>A (p.Met445Lys)
NM_014639.4(SKIC3):c.1187A>T (p.Tyr396Phe) rs142971570
NM_014639.4(SKIC3):c.1507T>C (p.Tyr503His)
NM_015474.4(SAMHD1):c.808G>A (p.Glu270Lys)
NM_022168.4(IFIH1):c.2771A>G (p.Glu924Gly) rs1690960964
NM_032193.4(RNASEH2C):c.404A>G (p.Glu135Gly)
NM_033629.6(TREX1):c.-27+4A>G
NM_033629.6(TREX1):c.206T>C (p.Leu69Pro) rs2107256717
NM_033629.6(TREX1):c.635C>T (p.Pro212Leu)
NM_198282.4(STING1):c.683A>G (p.Gln228Arg)

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