ClinVar Miner

List of variants reported as benign for polydactyly-syndactyly-triphalangism by Illumina Laboratory Services, Illumina

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 206
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002334.4(LRP4):c.1623T>C (p.Asp541=) rs10769215 0.99630
NM_002334.4(LRP4):c.1638A>G (p.Lys546=) rs10838631 0.98127
NM_000168.6(GLI3):c.1356+11G>C rs846273 0.97240
NM_198525.3(KIF7):c.1102A>G (p.Thr368Ala) rs8037349 0.90740
NM_025114.4(CEP290):c.853-12_853-11insG rs71082425 0.87640
NM_198525.3(KIF7):c.2658A>C (p.Ala886=) rs3803531 0.85312
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=) rs3741265 0.84043
NM_001173990.3(TMEM216):c.432-11_432-10insA rs11382548 0.83974
NM_001173990.3(TMEM216):c.*558G>A rs7607 0.73129
NM_001378615.1(CC2D2A):c.3183-8T>C rs13121363 0.69106
NM_153704.6(TMEM67):c.1066-3C>T rs3097427 0.65135
NM_153704.6(TMEM67):c.1810A>G (p.Ile604Val) rs3134031 0.64845
NM_000168.6(GLI3):c.547A>G (p.Thr183Ala) rs846266 0.64495
NM_002334.4(LRP4):c.*561T>C rs3829940 0.64017
NM_198525.3(KIF7):c.1788+13T>C rs1110060 0.59982
NM_198525.3(KIF7):c.3112-11_3112-10insCT rs35820949 0.57089
NM_001378615.1(CC2D2A):c.*21G>C rs1134634 0.57021
NM_017777.4(MKS1):c.858+9A>G rs3826300 0.53797
NM_198525.3(KIF7):c.3048G>A (p.Ser1016=) rs9672286 0.53592
NM_198525.3(KIF7):c.2896-14G>A rs9672296 0.53577
NM_198525.3(KIF7):c.3013G>A (p.Gly1005Arg) rs12900805 0.52523
NM_198525.3(KIF7):c.2873G>T (p.Ser958Ile) rs3803530 0.52464
NM_002334.4(LRP4):c.3256A>G (p.Ile1086Val) rs6485702 0.50674
NM_153240.4(NPHP3):c.-69A>G rs13099099 0.49619
NM_002334.4(LRP4):c.4660A>G (p.Ser1554Gly) rs2306029 0.42236
NM_198525.3(KIF7):c.*344T>C rs1054435 0.41372
NM_015272.5(RPGRIP1L):c.*737T>G rs3760008 0.37956
NM_015272.5(RPGRIP1L):c.*55T>A rs4784319 0.37955
NM_015272.5(RPGRIP1L):c.*1693G>A rs1946155 0.37946
NM_000168.6(GLI3):c.*428C>T rs2051935 0.35079
NM_000168.6(GLI3):c.2993C>T (p.Pro998Leu) rs929387 0.31467
NM_000168.6(GLI3):c.*2757C>T rs3823720 0.25562
NM_198525.3(KIF7):c.3517+6C>T rs74251725 0.25419
NM_198525.3(KIF7):c.154G>A (p.Asp52Asn) rs8179065 0.20556
NM_001378615.1(CC2D2A):c.3201G>A (p.Ser1067=) rs73125627 0.20422
NM_001378615.1(CC2D2A):c.124-6C>T rs1861049 0.15686
NM_002334.3(LRP4):c.-188C>T rs111383894 0.14671
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser) rs111775292 0.14328
NM_002334.4(LRP4):c.4905C>T (p.Phe1635=) rs2290883 0.12958
NM_002334.4(LRP4):c.3608C>T (p.Ala1203Val) rs2306033 0.12951
NM_025114.4(CEP290):c.2055T>C (p.Ala685=) rs45465996 0.11965
NM_015272.5(RPGRIP1L):c.3936C>T (p.Asp1312=) rs4784320 0.10935
NM_015272.5(RPGRIP1L):c.3073G>A (p.Gly1025Ser) rs2111119 0.10881
NM_000168.6(GLI3):c.*741A>G rs114615136 0.08538
NM_017777.4(MKS1):c.*75C>T rs35184412 0.08455
NM_017777.4(MKS1):c.*414C>T rs2302313 0.08215
NM_000165.5(GJA1):c.*1322A>T rs12212865 0.08165
NM_001173990.3(TMEM216):c.-2G>T rs7107543 0.08005
NM_001378615.1(CC2D2A):c.156C>T (p.Ser52=) rs1861050 0.07770
NM_000168.6(GLI3):c.900C>T (p.Ser300=) rs35961850 0.07677
NM_000168.6(GLI3):c.537C>T (p.His179=) rs3898405 0.07173
NM_000168.6(GLI3):c.4071C>T (p.Tyr1357=) rs34089404 0.07043
NM_000165.5(GJA1):c.*968T>C rs111878880 0.06674
NM_017777.4(MKS1):c.1671G>C (p.Leu557=) rs11548967 0.06374
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His) rs7307793 0.05381
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu) rs11104738 0.05247
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_002334.3(LRP4):c.-237G>C rs565737367 0.04762
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn) rs3213758 0.04663
NM_001378615.1(CC2D2A):c.777C>T (p.His259=) rs2286976 0.04284
NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp) rs7970228 0.04262
NM_000168.6(GLI3):c.*1296T>C rs77126593 0.04211
NM_153704.6(TMEM67):c.2892A>C (p.Thr964=) rs16916221 0.04084
NM_000165.5(GJA1):c.*173G>A rs72548744 0.03954
NM_001378615.1(CC2D2A):c.1127A>C (p.Glu376Ala) rs16892095 0.03933
NM_000168.6(GLI3):c.*726A>G rs118157739 0.03505
NM_000168.6(GLI3):c.*30G>T rs77886553 0.03497
NM_000168.6(GLI3):c.*655A>G rs77197280 0.03496
NM_000168.6(GLI3):c.*136T>A rs78794712 0.03493
NM_000168.6(GLI3):c.4609C>T (p.Arg1537Cys) rs35364414 0.03460
NM_000168.6(GLI3):c.*1087A>T rs76023240 0.03456
NM_000168.6(GLI3):c.4007G>A (p.Gly1336Glu) rs35280470 0.03456
NM_000168.6(GLI3):c.*847C>A rs116986447 0.03453
NM_000168.6(GLI3):c.-42-11G>C rs80019165 0.03314
NM_000168.6(GLI3):c.-94C>G rs112754065 0.02747
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln) rs2302677 0.02738
NM_198525.3(KIF7):c.1444-4A>G rs112333674 0.02204
NM_198525.3(KIF7):c.216G>A (p.Gln72=) rs113881220 0.02077
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly) rs79705698 0.02050
NM_000168.6(GLI3):c.*249A>T rs6972450 0.02026
NM_001142301.1(TMEM67):c.-200G>C rs79833026 0.01971
NM_198525.3(KIF7):c.*139C>T rs8037511 0.01904
NM_000168.6(GLI3):c.2835G>C (p.Leu945=) rs61758978 0.01858
NM_000168.6(GLI3):c.*2019C>T rs73318085 0.01690
NM_000168.5(GLI3):c.*3392G>T rs115519476 0.01463
NM_000168.6(GLI3):c.3774C>G (p.Leu1258=) rs35448119 0.01377
NM_000168.6(GLI3):c.*1297G>A rs116029585 0.01373
NM_000168.6(GLI3):c.3083G>T (p.Ser1028Ile) rs79049330 0.01304
NM_000168.6(GLI3):c.3084C>T (p.Ser1028=) rs79703713 0.01303
NM_017777.4(MKS1):c.1273+11G>A rs16942826 0.01295
NM_002334.4(LRP4):c.431-12G>A rs139371503 0.01289
NM_153704.6(TMEM67):c.2397T>C (p.Asp799=) rs117195541 0.01237
NM_002334.4(LRP4):c.*1445A>G rs75558883 0.01226
NM_198525.3(KIF7):c.2481C>T (p.Asn827=) rs35837280 0.01186
NM_000168.6(GLI3):c.*3262A>G rs73096902 0.00963
NM_002334.4(LRP4):c.5010G>A (p.Val1670=) rs111426027 0.00936
NM_000165.5(GJA1):c.*243A>G rs139128953 0.00907
NM_198525.3(KIF7):c.2271C>T (p.Ala757=) rs35451920 0.00897
NM_198525.3(KIF7):c.1189G>A (p.Ala397Thr) rs535621809 0.00887
NM_000168.6(GLI3):c.1029-11C>T rs116195563 0.00867
NM_002334.4(LRP4):c.*54G>A rs147627264 0.00852
NM_198525.3(KIF7):c.3012C>T (p.Arg1004=) rs61741227 0.00828
NM_002334.4(LRP4):c.*1017C>T rs10838623 0.00823
NM_198525.3(KIF7):c.-52G>T rs116805116 0.00808
NM_198525.3(KIF7):c.3999G>C (p.Pro1333=) rs137993810 0.00730
NM_198525.3(KIF7):c.1266C>G (p.Leu422=) rs8030837 0.00552
NM_000168.6(GLI3):c.*2715G>A rs193192167 0.00534
NM_198525.3(KIF7):c.1885G>A (p.Glu629Lys) rs149814240 0.00533
NM_000168.6(GLI3):c.2802G>A (p.Ala934=) rs61730503 0.00520
NM_000168.6(GLI3):c.2165A>G (p.Asn722Ser) rs146130351 0.00514
NM_000168.6(GLI3):c.*2117A>G rs185099021 0.00491
NM_198525.3(KIF7):c.294A>G (p.Ser98=) rs145049849 0.00465
NM_002334.4(LRP4):c.300G>A (p.Ser100=) rs61745166 0.00459
NM_000168.6(GLI3):c.4510A>C (p.Ile1504Leu) rs145419251 0.00424
NM_000168.6(GLI3):c.*911A>G rs187664615 0.00395
NM_000168.6(GLI3):c.1393G>C (p.Gly465Arg) rs35488756 0.00320
NM_000165.5(GJA1):c.-67C>G rs111581053 0.00310
NM_000168.6(GLI3):c.*1080G>A rs58924064 0.00285
NM_000168.6(GLI3):c.*603A>G rs182121145 0.00276
NM_000168.6(GLI3):c.341G>A (p.Arg114Lys) rs146458902 0.00274
NM_000168.6(GLI3):c.1028+15G>A rs116842918 0.00250
NM_000168.6(GLI3):c.*835G>A rs73688609 0.00225
NM_002334.4(LRP4):c.1494C>T (p.Asn498=) rs61749083 0.00221
NM_002334.4(LRP4):c.*1151C>T rs116705878 0.00213
NM_000168.6(GLI3):c.3664C>T (p.Pro1222Ser) rs118149040 0.00207
NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg) rs138410949 0.00203
NM_000168.6(GLI3):c.840C>G (p.Ser280=) rs77084911 0.00198
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met) rs62622373 0.00194
NM_000168.6(GLI3):c.444C>T (p.Tyr148=) rs142241970 0.00191
NM_000168.6(GLI3):c.*1691C>T rs181261768 0.00174
NM_002334.4(LRP4):c.*1627A>G rs544836196 0.00160
NM_000168.6(GLI3):c.2635G>A (p.Ala879Thr) rs137939155 0.00150
NM_000168.6(GLI3):c.*1464A>G rs566417596 0.00119
NM_000168.6(GLI3):c.3208A>T (p.Thr1070Ser) rs150907867 0.00104
NM_000168.6(GLI3):c.*943G>A rs139782938 0.00092
NM_000168.6(GLI3):c.501G>A (p.Thr167=) rs149901929 0.00084
NM_000168.6(GLI3):c.4005G>A (p.Pro1335=) rs149860242 0.00076
NM_000165.5(GJA1):c.*119T>C rs72548742 0.00071
NM_000168.6(GLI3):c.1647+13G>A rs149955824 0.00066
NM_000165.5(GJA1):c.*498G>A rs575593821 0.00063
NM_001378615.1(CC2D2A):c.2161C>T (p.Pro721Ser) rs199768782 0.00061
NM_000168.6(GLI3):c.*2357T>A rs562705224 0.00055
NM_000165.5(GJA1):c.1128G>A (p.Arg376=) rs145215218 0.00051
NM_000168.6(GLI3):c.1959G>A (p.Pro653=) rs148226583 0.00046
NM_000168.6(GLI3):c.2245A>G (p.Ile749Val) rs140048578 0.00039
NM_000168.6(GLI3):c.*1623A>G rs183853326 0.00038
NM_000168.6(GLI3):c.3984C>T (p.Leu1328=) rs148940743 0.00038
NM_000168.6(GLI3):c.3015C>T (p.Ala1005=) rs200965852 0.00032
NM_198525.3(KIF7):c.3665-5G>A rs79532879 0.00031
NM_002334.4(LRP4):c.*2080T>C rs76159791 0.00028
NM_000168.6(GLI3):c.3935T>G (p.Met1312Arg) rs199875457 0.00027
NM_000168.6(GLI3):c.3598C>G (p.His1200Asp) rs145069572 0.00025
NM_000168.6(GLI3):c.*332T>C rs190531579 0.00023
NM_000165.5(GJA1):c.1127G>A (p.Arg376Gln) rs104893965 0.00019
NM_000168.6(GLI3):c.3117G>A (p.Ala1039=) rs75796620 0.00019
NM_000168.6(GLI3):c.241G>A (p.Glu81Lys) rs376725882 0.00016
NM_002334.4(LRP4):c.*2252G>A rs188545674 0.00016
NM_000165.5(GJA1):c.706G>A (p.Val236Ile) rs148384161 0.00013
NM_000168.6(GLI3):c.*1411G>A rs148318176 0.00012
NM_000165.5(GJA1):c.456G>A (p.Leu152=) rs72548741 0.00011
NM_000168.6(GLI3):c.*11A>G rs139896177 0.00011
NM_000165.5(GJA1):c.612G>A (p.Thr204=) rs766082259 0.00009
NM_000168.6(GLI3):c.288C>T (p.His96=) rs200905584 0.00009
NM_000165.5(GJA1):c.-135C>T rs539558089 0.00007
NM_000168.6(GLI3):c.4524C>T (p.Ala1508=) rs201112421 0.00007
NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys) rs553968087 0.00007
NM_000168.6(GLI3):c.1800G>A (p.Thr600=) rs138445547 0.00006
NM_000165.5(GJA1):c.764G>A (p.Ser255Asn) rs765459582 0.00004
NM_000168.6(GLI3):c.1485G>A (p.Glu495=) rs149248727 0.00003
NM_000168.6(GLI3):c.2960A>G (p.Tyr987Cys) rs777313061 0.00003
NM_000168.6(GLI3):c.3149C>T (p.Thr1050Met) rs146556791 0.00003
NM_000168.6(GLI3):c.368-7T>G rs74376818 0.00003
NM_000168.6(GLI3):c.783C>T (p.Ala261=) rs748769754 0.00003
NM_000168.6(GLI3):c.935C>T (p.Thr312Met) rs772929930 0.00002
NM_000165.5(GJA1):c.814T>C (p.Ser272Pro) rs376074787 0.00001
NM_000168.6(GLI3):c.*28C>T rs761585918 0.00001
NM_000168.6(GLI3):c.4356G>A (p.Gln1452=) rs377535957 0.00001
NM_000168.6(GLI3):c.825T>C (p.Asp275=) rs201269781 0.00001
NM_000168.6(GLI3):c.99C>T (p.Ala33=) rs201109218 0.00001
NM_002334.4(LRP4):c.1365A>G (p.Pro455=) rs143481229 0.00001
NM_000165.5(GJA1):c.-16-12T>A rs56199702
NM_000165.5(GJA1):c.717G>A (p.Arg239=) rs57946868
NM_000165.5(GJA1):c.717G>C (p.Arg239=) rs57946868
NM_000168.6(GLI3):c.*2050T>G rs573860484
NM_000168.6(GLI3):c.*265dup rs550264781
NM_000168.6(GLI3):c.*3004G>A rs3735361
NM_000168.6(GLI3):c.*3238C>T rs372628047
NM_000168.6(GLI3):c.*3341dup rs138425063
NM_000168.6(GLI3):c.-68G>A rs113629469
NM_000168.6(GLI3):c.1207G>A (p.Val403Ile) rs201070431
NM_000168.6(GLI3):c.1356+10C>A rs765591867
NM_000168.6(GLI3):c.1497C>T (p.His499=) rs539144173
NM_000168.6(GLI3):c.1509C>T (p.Asn503=) rs34020684
NM_000168.6(GLI3):c.2083G>A (p.Val695Ile) rs199606102
NM_000168.6(GLI3):c.2826G>C (p.Pro942=) rs34245321
NM_000168.6(GLI3):c.3001G>A (p.Gly1001Ser) rs202182779
NM_000168.6(GLI3):c.4020C>T (p.Pro1340=) rs35139358
NM_001173990.3(TMEM216):c.432-1G>C rs10897158
NM_002334.4(LRP4):c.4937G>A (p.Arg1646Gln) rs3816614
NM_002968.3(SALL1):c.*588del rs35929381
NM_024809.5(TCTN2):c.*330_*331insACTC rs56918215
NM_025114.4(CEP290):c.3574-9del rs10717563
NM_025114.4(CEP290):c.6522+5dup rs11405846
NM_153240.5(NPHP3):c.3125+7dup rs11396595
NM_198525.3(KIF7):c.195G>C (p.Ala65=) rs8179066
NM_198525.3(KIF7):c.2592+11C>A rs78199895

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