ClinVar Miner

List of variants studied for Familial cold autoinflammatory syndrome 2 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 66
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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.-12C>T rs4539722 0.44990
NM_144687.4(NLRP12):c.116G>T (p.Gly39Val) rs34436714 0.22387
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.3046C>T (p.Arg1016Ter) rs35064500 0.00470
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.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.1731G>A (p.Lys577=) rs73608454 0.00126
NM_144687.4(NLRP12):c.2386del (p.His796fs) rs539741111 0.00102
NM_144687.4(NLRP12):c.2579C>G (p.Thr860Ser) rs150671525 0.00069
NM_144687.4(NLRP12):c.850C>T (p.Arg284Ter) rs104895564 0.00044
NM_144687.4(NLRP12):c.559G>A (p.Val187Met) rs147355465 0.00042
NM_144687.4(NLRP12):c.2927+11G>A rs376043494 0.00041
NM_144687.4(NLRP12):c.2384G>A (p.Arg795Gln) rs373954247 0.00040
NM_144687.4(NLRP12):c.1495A>G (p.Ile499Val) rs146903616 0.00038
NM_144687.4(NLRP12):c.629C>T (p.Pro210Leu) rs377594629 0.00021
NM_144687.4(NLRP12):c.1022C>T (p.Thr341Ile) rs200996095 0.00019
NM_144687.4(NLRP12):c.1054C>T (p.Arg352Cys) rs199881207 0.00019
NM_144687.4(NLRP12):c.1182C>G (p.Asn394Lys) rs201241894 0.00019
NM_144687.4(NLRP12):c.2895G>A (p.Leu965=) rs369220717 0.00013
NM_144687.4(NLRP12):c.3147G>A (p.Ala1049=) rs148506660 0.00008
NM_144687.4(NLRP12):c.1756C>T (p.His586Tyr) rs772704000 0.00006
NM_144687.4(NLRP12):c.2183G>A (p.Arg728Gln) rs373285006 0.00006
NM_144687.4(NLRP12):c.2966A>C (p.Asn989Thr) rs151187420 0.00006
NM_144687.4(NLRP12):c.1951T>C (p.Ser651Pro) rs370478544 0.00005
NM_144687.4(NLRP12):c.104C>T (p.Ala35Val) rs373357561 0.00004
NM_144687.4(NLRP12):c.1102G>A (p.Ala368Thr) rs541068679 0.00004
NM_144687.4(NLRP12):c.1855G>A (p.Glu619Lys) rs139082917 0.00004
NM_144687.4(NLRP12):c.78G>A (p.Lys26=) rs148263031 0.00002
NM_144687.4(NLRP12):c.1386C>T (p.Cys462=) rs1369275354 0.00001
NM_144687.4(NLRP12):c.289+14G>A rs777899039 0.00001
NM_144687.4(NLRP12):c.448T>A (p.Cys150Ser) rs746324074 0.00001
NM_144687.4(NLRP12):c.653C>T (p.Ala218Val) rs749659859 0.00001
NM_144687.4(NLRP12):c.654G>A (p.Ala218=) rs745766441 0.00001
NM_144687.4(NLRP12):c.964C>G (p.Leu322Val) rs745451806 0.00001
NM_144687.4(NLRP12):c.1894C>T (p.His632Tyr) rs1600706886
NM_144687.4(NLRP12):c.1952C>A (p.Ser651Ter) rs781361326
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.2602C>T (p.Leu868Phe) rs1600683649
NM_144687.4(NLRP12):c.2754G>A (p.Leu918=) rs61741347
NM_144687.4(NLRP12):c.2830C>A (p.Arg944=) rs104895570
NM_144687.4(NLRP12):c.3015G>A (p.Leu1005=)
NM_144687.4(NLRP12):c.3088C>G (p.Arg1030Gly) rs201619538
NM_144687.4(NLRP12):c.617G>A (p.Arg206His) rs139461508

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