ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare and "likely pathogenic" from any submitter

Minimum review status of the submission from Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare: Collection method of the submission from Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 52
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HGVS dbSNP gnomAD frequency
NM_014140.4(SMARCAL1):c.2114C>T (p.Thr705Ile) rs200644381 0.00019
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg) rs200287952 0.00016
NM_014669.5(NUP93):c.1772G>T (p.Gly591Val) rs145473779 0.00014
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033 0.00013
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp) rs398122978 0.00004
NM_018129.4(PNPO):c.686G>A (p.Arg229Gln) rs773450573 0.00003
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg) rs772708743 0.00002
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) rs104886308 0.00002
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln) rs777201305 0.00001
NM_004621.6(TRPC6):c.524G>A (p.Arg175Gln) rs1451194842 0.00001
NM_004646.4(NPHS1):c.808G>T (p.Gly270Cys) rs386833961 0.00001
NM_014625.4(NPHS2):c.871C>T (p.Arg291Trp) rs74315348 0.00001
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter) rs775710800 0.00001
NM_138413.4(HOGA1):c.123del (p.Pro41_Val42insTer) rs1419840309 0.00001
NM_201548.5(CERKL):c.239-2A>G rs776886395 0.00001
NM_000018.4(ACADVL):c.864del (p.Phe288fs) rs1555528386
NM_000035.4(ALDOB):c.865del (p.Leu289fs) rs864309533
NM_000063.6(C2):c.841_849+19del rs9332736
NM_000071.3(CBS):c.434C>T (p.Pro145Leu) rs121964963
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup) rs1175052474
NM_000092.5(COL4A4):c.4684del (p.Tyr1562fs) rs1962591629
NM_000092.5(COL4A4):c.594+1G>A rs1553690565
NM_000141.5(FGFR2):c.1694A>C (p.Glu565Ala) rs121918506
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) rs28933068
NM_000186.4(CFH):c.2950T>C (p.Cys984Arg) rs886039869
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp) rs199473411
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg) rs727503329
NM_000283.4(PDE6B):c.1832+1G>T rs370758397
NM_000458.4(HNF1B):c.544+3_544+6del
NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp) rs121918009
NM_000503.6(EYA1):c.1044T>G (p.Tyr348Ter) rs1554615511
NM_001009944.3(PKD1):c.12489_12490del (p.Arg4164fs) rs2091411664
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001142800.2(EYS):c.8830del (p.Val2944fs) rs776526721
NM_003718.5(CDK13):c.484dup (p.Ala162fs) rs1405252481
NM_003722.5(TP63):c.797G>A (p.Arg266Gln) rs121908849
NM_004183.4(BEST1):c.658C>T (p.Gln220Ter) rs775283269
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs) rs386833935
NM_005629.4(SLC6A8):c.626_627del (p.Pro209fs) rs1603215223
NM_014140.4(SMARCAL1):c.2427+1G>A rs1559138455
NM_014625.4(NPHS2):c.586C>T (p.Arg196Ter) rs12568913
NM_014956.5(CEP164):c.2992C>T (p.Arg998Ter) rs1323529877
NM_015506.3(MMACHC):c.82-11_82-8del rs751236442
NM_022356.4(P3H1):c.570_571del (p.Gly191fs) rs1553143741
NM_022489.4(INF2):c.658G>A (p.Glu220Lys) rs530391015
NM_024426.6(WT1):c.1388G>A (p.Arg463Gln) rs1037084691
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys) rs797044995
NM_033380.3(COL4A5):c.3410G>A (p.Gly1137Asp) rs1131691795
NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln) rs281874743
NM_172351.3(CD46):c.714_715del (p.Gln238fs) rs1571616755
NM_206933.4(USH2A):c.409dup (p.Ser137fs) rs1571805164

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