ClinVar Miner

List of variants studied for autoinflammatory syndrome of childhood by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

Included ClinVar conditions (48):
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ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg) rs202134424 0.00010
NM_033629.6(TREX1):c.667G>A (p.Ala223Thr) rs766785968 0.00002
NM_004371.4(COPA):c.251G>A (p.Arg84His) rs1252870201 0.00001
NM_001282225.2(ADA2):c.1447A>C (p.Ser483Arg)
NM_001282225.2(ADA2):c.1447_1451del (p.Ser483fs) rs1601419986
NM_001282225.2(ADA2):c.882-2A>G rs2062095528
NM_004159.5(PSMB8):c.107_108del (p.Pro36fs)
NM_004371.4(COPA):c.1742T>A (p.Leu581Gln)
NM_004371.4(COPA):c.2330C>T (p.Thr777Ile) rs913037992
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln) rs753679297
NM_006397.3(RNASEH2A):c.622T>C (p.Ser208Pro) rs2145827947
NM_006397.3(RNASEH2A):c.704G>C (p.Arg235Pro)
NM_006929.5(SKIC2):c.1114G>A (p.Asp372Asn)
NM_006929.5(SKIC2):c.1598C>T (p.Ala533Val)
NM_006929.5(SKIC2):c.3561_3581del (p.Ser1189_Leu1195del) rs1582192007
NM_014639.4(SKIC3):c.1045A>G (p.Arg349Gly)
NM_014639.4(SKIC3):c.2181_2182del (p.Tyr728fs)
NM_024570.4(RNASEH2B):c.356A>G (p.Asp119Gly) rs786205483
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly) rs74555752
NM_024570.4(RNASEH2B):c.818A>T (p.Glu273Val)
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) rs79318303

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