ClinVar Miner

List of variants reported as likely pathogenic by Genome Diagnostics Laboratory, Amsterdam University Medical Center

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Total variants: 94
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HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) rs150766139 0.00138
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) rs137854523 0.00098
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_017807.4(OSGEP):c.328T>C (p.Cys110Arg) rs140076803 0.00036
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266 0.00034
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00019
NM_001282225.2(ADA2):c.973-2A>G rs139750129 0.00018
NM_014321.4(ORC6):c.449+5G>A rs572314014 0.00016
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289 0.00013
NM_014625.4(NPHS2):c.868G>A (p.Val290Met) rs200482683 0.00011
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg) rs61752334 0.00011
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_001849.4(COL6A2):c.1970-9G>A rs747900252 0.00008
NM_004614.5(TK2):c.416C>T (p.Ala139Val) rs281865494 0.00008
NM_020919.4(ALS2):c.-60-2A>G rs532217889 0.00006
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter) rs777215595 0.00005
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe) rs74315456 0.00004
NM_020533.3(MCOLN1):c.1084G>T (p.Asp362Tyr) rs121908372 0.00004
NM_021942.6(TRAPPC11):c.1287+5G>A rs397509418 0.00004
NM_031433.4(MFRP):c.1615C>T (p.Arg539Cys) rs374823079 0.00004
NM_000079.4(CHRNA1):c.317G>A (p.Trp106Ter) rs1476453955 0.00003
NM_001003841.3(SLC6A19):c.774+1G>A rs554777392 0.00003
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter) rs398124119 0.00003
NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val) rs80356740 0.00003
NM_018941.4(CLN8):c.470A>G (p.His157Arg) rs149308952 0.00003
NM_000257.4(MYH7):c.706G>A (p.Val236Ile) rs397516261 0.00002
NM_000083.3(CLCN1):c.1471+1G>A rs375596425 0.00001
NM_000165.5(GJA1):c.443G>A (p.Arg148Gln) rs962041031 0.00001
NM_000170.3(GLDC):c.806C>T (p.Thr269Met) rs386833587 0.00001
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln) rs765380155 0.00001
NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys) rs74315479 0.00001
NM_001164508.2(NEB):c.22831C>T (p.Arg7611Ter) rs555582398 0.00001
NM_001374623.1(PNPLA1):c.704C>T (p.Pro235Leu) rs376245108 0.00001
NM_001846.4(COL4A2):c.4147G>A (p.Gly1383Arg) rs797044947 0.00001
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter) rs730881864 0.00001
NM_004168.4(SDHA):c.150+1G>A rs1057523165 0.00001
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp) rs200397144 0.00001
NM_017807.4(OSGEP):c.332T>C (p.Ile111Thr) rs1443735811 0.00001
NM_020549.5(CHAT):c.1288G>A (p.Val430Met) rs745991038 0.00001
NM_024301.5(FKRP):c.1384C>T (p.Pro462Ser) rs768606230 0.00001
NM_170784.3(MKKS):c.1034G>A (p.Gly345Glu) rs779116830 0.00001
NM_178452.6(DNAAF1):c.1528+2T>C rs569633512 0.00001
NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro) rs568461905
NM_000098.3(CPT2):c.577C>T (p.Arg193Cys) rs375968699
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs) rs556794126
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000152.5(GAA):c.1004G>A (p.Gly335Glu) rs730880022
NM_000266.4(NDP):c.112C>T (p.Arg38Cys) rs758550101
NM_000282.4(PCCA):c.1409T>G (p.Leu470Arg) rs2152697481
NM_000314.8(PTEN):c.103A>G (p.Met35Val) rs876659443
NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp) rs61748529
NM_000448.3(RAG1):c.140del (p.Lys47fs) rs2133292794
NM_000516.7(GNAS):c.1096G>A (p.Ala366Thr) rs137854537
NM_001080421.3(UNC13A):c.2441C>T (p.Pro814Leu) rs2076985517
NM_001080510.5(METTL23):c.238del (p.Thr80fs) rs1327060248
NM_001127178.3(PIGG):c.2624_2625del (p.Gly874_Leu875insTer) rs771819481
NM_001134232.2(TMEM106B):c.754G>A (p.Asp252Asn) rs1554310600
NM_001172509.2(SATB2):c.1196G>A (p.Arg399His) rs1057518190
NM_001244710.2(GFPT1):c.*22C>A rs199678034
NM_001244710.2(GFPT1):c.606-8A>G rs2104648140
NM_001253852.3(AP4B1):c.616C>T (p.Arg206Ter) rs762612591
NM_001348800.3(ZBTB20):c.1794C>G (p.Phe598Leu) rs777874668
NM_001349338.3(FOXP1):c.1540C>T (p.Arg514Cys) rs869025203
NM_001354604.2(MITF):c.1096C>T (p.Arg366Ter) rs2066482593
NM_001356.5(DDX3X):c.1156C>T (p.Pro386Ser) rs2147356322
NM_001458.5(FLNC):c.577G>A (p.Ala193Thr) rs387906587
NM_001958.5(EEF1A2):c.271G>A (p.Asp91Asn) rs886041197
NM_003042.4(SLC6A1):c.1084G>A (p.Gly362Arg) rs1131691302
NM_003242.6(TGFBR2):c.1114A>G (p.Lys372Glu) rs2125436283
NM_003482.4(KMT2D):c.1258+5G>A rs2120689175
NM_004187.5(KDM5C):c.1793C>T (p.Pro598Leu) rs1556842216
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys)
NM_005208.5(CRYBA1):c.500+1G>C rs775038545
NM_005902.4(SMAD3):c.802C>T (p.Arg268Cys) rs794727798
NM_006086.4(TUBB3):c.763G>A (p.Val255Ile) rs1057517908
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs) rs549586181
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser) rs121909739
NM_006940.6(SOX5):c.1673G>A (p.Arg558His)
NM_012062.5(DNM1L):c.1207C>T (p.Arg403Cys) rs863223953
NM_013339.4(ALG6):c.894AAT[1] (p.Ile299del) rs387906338
NM_014946.4(SPAST):c.1196C>T (p.Ser399Leu) rs1553317025
NM_015046.7(SETX):c.4630_4631del (p.Leu1544fs) rs1356107030
NM_015915.5(ATL1):c.488T>C (p.Val163Ala) rs1595600383
NM_017534.6(MYH2):c.2615C>G (p.Ser872Ter) rs2142303290
NM_022455.5(NSD1):c.5741G>T (p.Arg1914Leu) rs587784155
NM_024675.4(PALB2):c.18G>T (p.Gly6=) rs587782462
NM_031407.7(HUWE1):c.328C>T (p.Arg110Trp) rs1057520538
NM_138694.4(PKHD1):c.8302+2T>C rs2151510946
NM_183235.3(RAB27A):c.259G>C (p.Ala87Pro) rs104894497

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