ClinVar Miner

List of variants reported as likely benign for immune system disorder by Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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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_001065.4(TNFRSF1A):c.789T>C (p.Thr263=) rs201290189 0.00069
NM_001065.4(TNFRSF1A):c.645C>T (p.Pro215=) rs147075345 0.00020
NM_000243.3(MEFV):c.1518C>T (p.Ile506=) rs104895099 0.00015
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_000243.3(MEFV):c.540G>C (p.Pro180=) rs104895139 0.00001
NM_000431.4(MVK):c.945G>A (p.Leu315=) rs752469036 0.00001
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp) rs104895179
NM_001065.4(TNFRSF1A):c.714G>A (p.Arg238=) rs200376188

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