ClinVar Miner

List of variants studied for autoinflammatory syndrome by Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals

Included ClinVar conditions (114):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.2118G>A (p.Pro706=) rs2234939 0.00864
NM_000243.3(MEFV):c.42G>A (p.Glu14=) rs113314808 0.00369
NM_001065.4(TNFRSF1A):c.1110C>T (p.Arg370=) rs201683984 0.00236
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_001065.4(TNFRSF1A):c.789T>C (p.Thr263=) rs201290189 0.00069
NM_000243.3(MEFV):c.2149C>T (p.Arg717Cys) rs104895192 0.00066
NM_000243.3(MEFV):c.926C>T (p.Thr309Met) rs104895155 0.00032
NM_001065.4(TNFRSF1A):c.645C>T (p.Pro215=) rs147075345 0.00020
NM_000431.4(MVK):c.803T>C (p.Ile268Thr) rs104895304 0.00018
NM_000243.3(MEFV):c.1518C>T (p.Ile506=) rs104895099 0.00015
NM_000243.3(MEFV):c.1528G>A (p.Asp510Asn) rs200557537 0.00014
NM_000243.3(MEFV):c.460T>C (p.Ser154Pro) rs756975501 0.00005
NM_000431.4(MVK):c.1139A>G (p.His380Arg) rs104895324 0.00005
NM_000243.3(MEFV):c.1758T>C (p.Asn586=) rs202228332 0.00003
NM_000431.4(MVK):c.700C>T (p.Leu234=) rs199909816 0.00003
NM_001065.4(TNFRSF1A):c.1038C>G (p.His346Gln) rs201994938 0.00003
NM_000243.3(MEFV):c.239G>A (p.Arg80His) rs201075710 0.00002
NM_000243.3(MEFV):c.149C>T (p.Pro50Leu) rs144716190 0.00001
NM_000243.3(MEFV):c.1508C>G (p.Ser503Cys) rs190705322 0.00001
NM_000243.3(MEFV):c.1559A>T (p.Glu520Val) rs769888172 0.00001
NM_000243.3(MEFV):c.540G>C (p.Pro180=) rs104895139 0.00001
NM_000431.4(MVK):c.945G>A (p.Leu315=) rs752469036 0.00001
NM_001065.4(TNFRSF1A):c.40-5C>G rs757941488 0.00001
NM_000243.3(MEFV):c.1129C>G (p.Arg377Gly) rs896909303
NM_000243.3(MEFV):c.1252G>A (p.Glu418Lys) rs1958996963
NM_000243.3(MEFV):c.1627G>C (p.Val543Leu) rs1958911016
NM_000243.3(MEFV):c.2060G>A (p.Gly687Asp) rs387907570
NM_000243.3(MEFV):c.217G>A (p.Val73Ile) rs2141679452
NM_000243.3(MEFV):c.497C>T (p.Ser166Leu) rs766670643
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp) rs104895179
NM_000243.3(MEFV):c.799A>T (p.Thr267Ser)
NM_000243.3(MEFV):c.909C>A (p.Thr303=) rs1429025477
NM_001065.4(TNFRSF1A):c.714G>A (p.Arg238=) rs200376188
NM_001065.4(TNFRSF1A):c.796C>A (p.Pro266Thr)

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