ClinVar Miner

List of variants reported as uncertain significance for congenital limb malformation by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (335):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_001999.4(FBN2):c.6511+5G>A rs200608284 0.00363
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358 0.00223
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00117
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441 0.00091
NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr) rs1800068 0.00082
NM_001018115.3(FANCD2):c.1777C>T (p.Pro593Ser) rs147523071 0.00071
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr) rs191645600 0.00061
NM_005523.6(HOXA11):c.396G>C (p.Arg132Ser) rs143812636 0.00052
NM_022725.4(FANCF):c.241G>T (p.Ala81Ser) rs145057187 0.00048
NM_032444.4(SLX4):c.2681T>G (p.Val894Gly) rs145137472 0.00036
NM_032444.4(SLX4):c.2585G>A (p.Arg862Gln) rs143558209 0.00030
NM_021922.3(FANCE):c.53C>T (p.Pro18Leu) rs991748781 0.00025
NM_032634.4(PIGO):c.2705C>G (p.Thr902Ser) rs372802683 0.00025
NM_004260.4(RECQL4):c.2953G>A (p.Val985Met) rs200629599 0.00024
NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile) rs138834515 0.00021
NM_001999.4(FBN2):c.2536G>A (p.Glu846Lys) rs375666281 0.00014
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_000135.4(FANCA):c.3157C>T (p.Arg1053Cys) rs376103033 0.00011
NM_017837.4(PIGV):c.134G>A (p.Arg45His) rs148135928 0.00011
NM_004260.4(RECQL4):c.1132-8C>A rs370660188 0.00010
NM_017617.5(NOTCH1):c.3334G>A (p.Val1112Ile) rs370696201 0.00009
NM_017617.5(NOTCH1):c.7313C>T (p.Pro2438Leu) rs199777870 0.00008
NM_001018115.3(FANCD2):c.1757C>T (p.Ala586Val) rs377490218 0.00007
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met) rs756972680 0.00007
NM_001999.4(FBN2):c.5855T>C (p.Val1952Ala) rs372879535 0.00006
NM_001999.4(FBN2):c.7808T>C (p.Phe2603Ser) rs374507398 0.00006
NM_001999.4(FBN2):c.3584G>A (p.Arg1195His) rs751600209 0.00005
NM_001999.4(FBN2):c.5494C>T (p.Arg1832Cys) rs778519094 0.00005
NM_001018115.3(FANCD2):c.1265C>G (p.Ser422Cys) rs765378218 0.00004
NM_017617.5(NOTCH1):c.7498C>G (p.His2500Asp) rs763902589 0.00004
NM_001113378.2(FANCI):c.1743A>C (p.Glu581Asp) rs779310267 0.00003
NM_000059.4(BRCA2):c.6013G>T (p.Asp2005Tyr) rs587781760 0.00002
NM_000135.4(FANCA):c.1477A>G (p.Ile493Val) rs762828757 0.00002
NM_001113378.2(FANCI):c.1742A>G (p.Glu581Gly) rs1262508273 0.00002
NM_017617.5(NOTCH1):c.1250C>T (p.Ser417Leu) rs757631575 0.00002
NM_017617.5(NOTCH1):c.2937C>T (p.His979=) rs1406216361 0.00002
NM_000135.4(FANCA):c.2013T>C (p.Asp671=) rs1225307143 0.00001
NM_000136.3(FANCC):c.1464G>C (p.Arg488Ser) rs1415434775 0.00001
NM_001113378.2(FANCI):c.3709G>C (p.Ala1237Pro) rs751025656 0.00001
NM_001113378.2(FANCI):c.557T>C (p.Leu186Pro) rs1370113722 0.00001
NM_001999.4(FBN2):c.3495C>A (p.Asn1165Lys) rs774250442 0.00001
NM_004260.4(RECQL4):c.2032G>A (p.Val678Met) rs780282337 0.00001
NM_017617.5(NOTCH1):c.2644G>A (p.Ala882Thr) rs767886377 0.00001
NM_017617.5(NOTCH1):c.3908G>A (p.Arg1303His) rs768775024 0.00001
NM_017837.4(PIGV):c.968A>G (p.Lys323Arg) rs774991514 0.00001
NM_024675.4(PALB2):c.1540G>A (p.Gly514Arg) rs756778249 0.00001
NM_032444.4(SLX4):c.3419A>C (p.Lys1140Thr) rs1374316194 0.00001
NM_032444.4(SLX4):c.4700C>T (p.Ser1567Phe) rs755754734 0.00001
NM_001018113.3(FANCB):c.1624C>T (p.Pro542Ser) rs868761818
NM_001018115.3(FANCD2):c.2284C>G (p.Leu762Val)
NM_001999.4(FBN2):c.1799_1800delinsTT (p.Cys600Phe) rs1581251031
NM_001999.4(FBN2):c.1800delinsTT (p.Ile601fs)
NM_001999.4(FBN2):c.255-3C>G rs2112809259
NM_001999.4(FBN2):c.3481G>A (p.Glu1161Lys) rs1554123065
NM_001999.4(FBN2):c.4559G>T (p.Gly1520Val) rs886038767
NM_001999.4(FBN2):c.8547A>G (p.Gln2849=) rs1561733846
NM_004260.4(RECQL4):c.2573C>T (p.Thr858Ile)
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_017617.5(NOTCH1):c.3556G>C (p.Glu1186Gln)
NM_017617.5(NOTCH1):c.4985G>A (p.Arg1662Gln) rs774808496
NM_017837.4(PIGV):c.1464C>T (p.Asn488=) rs973687848
NM_017837.4(PIGV):c.728T>C (p.Leu243Pro) rs771841963
NM_018062.4(FANCL):c.147_148delinsTT (p.Lys49_Asn50delinsAsnTyr) rs1558825558
NM_018062.4(FANCL):c.148delinsTT (p.Asn50fs)
NM_018062.4(FANCL):c.548TAA[1] (p.Ile184del) rs1573532439
NM_022725.4(FANCF):c.353G>T (p.Gly118Val) rs200874455
NM_032444.4(SLX4):c.3842G>A (p.Gly1281Glu) rs766299864
NM_032444.4(SLX4):c.3948_3962del (p.Pro1317_Pro1321del) rs1302525912
NM_032634.4(PIGO):c.2388G>A (p.Val796=) rs1563995829
NM_032634.4(PIGO):c.3194G>C (p.Gly1065Ala) rs1563992617
NM_058216.3(RAD51C):c.118G>A (p.Glu40Lys) rs786204086
NM_058216.3(RAD51C):c.211A>T (p.Asn71Tyr) rs876659936
NM_170707.4(LMNA):c.1198G>A (p.Gly400Ser)
NM_181486.4(TBX5):c.557T>G (p.Val186Gly) rs1555226019
NM_182961.4(SYNE1):c.-224+1G>A

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