ClinVar Miner

List of variants reported as benign for Familial cold autoinflammatory syndrome 2 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_144687.4(NLRP12):c.2394G>A (p.Gln798=) rs4806773 0.85135
NM_144687.4(NLRP12):c.116G>T (p.Gly39Val) rs34436714 0.22387
NM_144687.4(NLRP12):c.2394= (p.Gln798=) rs4806773 0.14865
NM_144687.4(NLRP12):c.1206C>G (p.Phe402Leu) rs34971363 0.05162
NM_144687.4(NLRP12):c.289+18C>T rs116129563 0.03610
NM_144687.4(NLRP12):c.1347C>G (p.Ala449=) rs111234757 0.02160
NM_144687.4(NLRP12):c.609C>T (p.Asp203=) rs34854934 0.01168
NM_144687.4(NLRP12):c.2784C>T (p.Ala928=) rs104895569 0.01141
NM_144687.4(NLRP12):c.2576G>A (p.Arg859Gln) rs79884502 0.00917
NM_144687.4(NLRP12):c.2927+17G>A rs111310321 0.00864
NM_144687.4(NLRP12):c.969T>G (p.Leu323=) rs142063194 0.00814
NM_144687.4(NLRP12):c.956C>G (p.Pro319Arg) rs35401786 0.00803
NM_144687.4(NLRP12):c.424G>A (p.Asp142Asn) rs34330210 0.00799
NM_144687.4(NLRP12):c.2755C>T (p.Arg919Trp) rs61741349 0.00716
NM_144687.4(NLRP12):c.2754G>C (p.Leu918=) rs61741347 0.00692
NM_144687.4(NLRP12):c.2414+16C>T rs75073147 0.00604
NM_144687.4(NLRP12):c.910C>T (p.His304Tyr) rs141245482 0.00392
NM_144687.4(NLRP12):c.960G>A (p.Thr320=) rs77625808 0.00311
NM_144687.4(NLRP12):c.1437G>A (p.Gln479=) rs77667763 0.00294
NM_144687.4(NLRP12):c.2141A>G (p.Asn714Ser) rs150848917 0.00278
NM_144687.4(NLRP12):c.2701G>C (p.Val901Leu) rs104895568 0.00265
NM_144687.4(NLRP12):c.2927+14A>G rs199476247 0.00247
NM_144687.4(NLRP12):c.1299A>G (p.Ala433=) rs73608455 0.00194
NM_144687.4(NLRP12):c.819T>C (p.Pro273=) rs59749540 0.00191
NM_144687.4(NLRP12):c.1352G>A (p.Arg451His) rs76085152 0.00188
NM_144687.4(NLRP12):c.2227A>C (p.Lys743Gln) rs74373537 0.00180
NM_144687.4(NLRP12):c.1063G>A (p.Glu355Lys) rs143855597 0.00161
NM_144687.4(NLRP12):c.3024C>T (p.Asn1008=) rs140769141 0.00142
NM_144687.4(NLRP12):c.3004G>A (p.Asp1002Asn) rs144746100 0.00131
NM_144687.4(NLRP12):c.1731G>A (p.Lys577=) rs73608454 0.00126
NM_144687.4(NLRP12):c.1170C>T (p.Tyr390=) rs146245368 0.00109
NM_144687.4(NLRP12):c.2927+11G>A rs376043494 0.00041
NM_144687.4(NLRP12):c.2442G>A (p.Gly814=) rs140247843 0.00036
NM_144687.4(NLRP12):c.2757-8C>G rs370391218 0.00025
NM_144687.4(NLRP12):c.2258G>A (p.Arg753His) rs148745997 0.00022
NM_144687.4(NLRP12):c.1881G>A (p.Gln627=) rs146286014 0.00019
NM_144687.4(NLRP12):c.2673G>A (p.Leu891=) rs201832323 0.00017
NM_144687.4(NLRP12):c.3146C>T (p.Ala1049Val) rs146786265 0.00016
NM_144687.4(NLRP12):c.831G>A (p.Ala277=) rs371391087 0.00013
NM_144687.4(NLRP12):c.1599C>T (p.Gly533=) rs758678359 0.00006
NM_144687.4(NLRP12):c.2928-18A>G rs199524599 0.00006
NM_144687.4(NLRP12):c.1316T>A (p.Leu439Gln) rs373446463 0.00004
NM_144687.4(NLRP12):c.280C>T (p.Leu94=) rs764551921 0.00003
NM_144687.4(NLRP12):c.371-4C>T rs575320793 0.00001
NM_144687.4(NLRP12):c.1137C>T (p.His379=)
NM_144687.4(NLRP12):c.1204T>C (p.Phe402Leu)
NM_144687.4(NLRP12):c.2206G>A (p.Gly736Arg) rs554602951
NM_144687.4(NLRP12):c.2469C>A (p.Leu823=) rs12460528
NM_144687.4(NLRP12):c.2469C>T (p.Leu823=) rs12460528
NM_144687.4(NLRP12):c.2830C>A (p.Arg944=) rs104895570
NM_144687.4(NLRP12):c.2927+13del rs1248962183
NM_144687.4(NLRP12):c.3088C>G (p.Arg1030Gly) rs201619538
NM_144687.4(NLRP12):c.3098+17A>G
NM_144687.4(NLRP12):c.3180C>G (p.Gly1060=)

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