ClinVar Miner

List of variants reported as likely benign for Familial Mediterranean fever by Natera, Inc.

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ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.1760-4G>A rs79662406 0.00459
NM_000243.3(MEFV):c.42G>A (p.Glu14=) rs113314808 0.00369
NM_000243.3(MEFV):c.1467G>A (p.Gln489=) rs61732424 0.00341
NM_000243.3(MEFV):c.333G>A (p.Gly111=) rs61732425 0.00339
NM_000243.3(MEFV):c.1173T>C (p.Asp391=) rs146077729 0.00201
NM_000243.3(MEFV):c.932C>T (p.Ala311Val) rs74346519 0.00063
NM_000243.3(MEFV):c.1260+10C>T rs104895137 0.00035
NM_000243.3(MEFV):c.372C>T (p.Pro124=) rs104895078 0.00035
NM_000243.3(MEFV):c.1344A>C (p.Ala448=) rs143337771 0.00034
NM_000243.3(MEFV):c.2292G>T (p.Gly764=) rs142352887 0.00034
NM_000243.3(MEFV):c.1827C>G (p.Pro609=) rs104895135 0.00029
NM_000243.3(MEFV):c.1038C>G (p.Gly346=) rs141090517 0.00019
NM_000243.3(MEFV):c.1245C>T (p.Val415=) rs104895195 0.00017
NM_000243.3(MEFV):c.1518C>T (p.Ile506=) rs104895099 0.00015
NM_000243.3(MEFV):c.2049G>A (p.Ser683=) rs104895092 0.00006
NM_000243.3(MEFV):c.657C>T (p.Gly219=) rs104895182 0.00006
NM_000243.3(MEFV):c.2337G>C (p.Gly779=) rs104895153 0.00005
NM_000243.3(MEFV):c.1527C>T (p.Leu509=) rs571832030 0.00004
NM_000243.3(MEFV):c.2109C>T (p.Ser703=) rs104895118 0.00004
NM_000243.3(MEFV):c.948C>T (p.His316=) rs150252937 0.00004
NM_000243.3(MEFV):c.1179C>T (p.Pro393=) rs104895082 0.00003
NM_000243.3(MEFV):c.1803T>A (p.Ile601=) rs779572391 0.00003
NM_000243.3(MEFV):c.1938G>A (p.Pro646=) rs104895160 0.00003
NM_000243.3(MEFV):c.195C>T (p.Tyr65=) rs104895077 0.00003
NM_000243.3(MEFV):c.456G>A (p.Gly152=) rs368333568 0.00003
NM_000243.3(MEFV):c.1911C>T (p.Asp637=) rs746646325 0.00002
NM_000243.3(MEFV):c.1899G>A (p.Pro633=) rs776315170 0.00001
NM_000243.3(MEFV):c.801A>G (p.Thr267=) rs141455838 0.00001
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu) rs11466026
NM_000243.3(MEFV):c.1764G>T (p.Pro588=) rs1231122
NM_000243.3(MEFV):c.1818C>T (p.Thr606=) rs104895213
NM_000243.3(MEFV):c.342G>A (p.Lys114=) rs981883034
NM_000243.3(MEFV):c.564C>T (p.Pro188=) rs775755423
NM_000243.3(MEFV):c.585G>A (p.Glu195=) rs200766991
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp) rs104895179

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