ClinVar Miner

List of variants in gene combination LOC126862264, MEFV reported as benign for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.1764= (p.Pro588=) rs1231122 0.58770
NM_000243.3(MEFV):c.1764G>A (p.Pro588=) rs1231122 0.41230
NM_000243.3(MEFV):c.1760-30T>A rs1231123 0.39404
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr) rs11466045 0.01021
NM_000243.3(MEFV):c.2118G>A (p.Pro706=) rs2234939 0.00864
NM_000243.3(MEFV):c.2163C>T (p.Phe721=) rs11466047 0.00484
NM_000243.3(MEFV):c.1760-4G>A rs79662406 0.00459
NM_000243.3(MEFV):c.1759+8C>T rs77380520 0.00321
NM_000243.3(MEFV):c.1758T>C (p.Asn586=) rs202228332 0.00003
NM_000243.3(MEFV):c.2103G>A (p.Ala701=) rs104895095 0.00002
NM_000243.3(MEFV):c.2078T>C (p.Met693Thr) rs749052818 0.00001
NM_000243.3(MEFV):c.2160C>G (p.Ile720Met) rs104895102 0.00001

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