ClinVar Miner

List of variants reported as likely pathogenic by Institute of Human Genetics, University Hospital of Duesseldorf

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp) rs181860632 0.00010
NM_000398.7(CYB5R3):c.757G>A (p.Val253Met) rs144071404 0.00006
NM_001384732.1(CPLANE1):c.4006C>T (p.Arg1336Trp) rs367543061 0.00002
NM_005529.7(HSPG2):c.5273G>A (p.Arg1758Gln) rs2229483 0.00002
NM_000051.4(ATM):c.3576G>A (p.Lys1192=) rs587776551 0.00001
NM_015107.3(PHF8):c.1731-2A>G rs1437750762 0.00001
NM_000038.6(APC):c.4786del (p.Gln1596fs)
NM_000161.3(GCH1):c.689T>C (p.Met230Thr) rs2140038798
NM_000166.6(GJB1):c.127G>A (p.Val43Met) rs1602348804
NM_000311.5(PRNP):c.532G>A (p.Asp178Asn) rs74315403
NM_000393.5(COL5A2):c.3391G>A (p.Gly1131Ser) rs747946828
NM_000489.6(ATRX):c.6793G>A (p.Glu2265Lys)
NM_000530.8(MPZ):c.244T>C (p.Tyr82His) rs281865124
NM_001142864.4(PIEZO1):c.6008C>A (p.Ala2003Asp)
NM_001160372.4(TRAPPC9):c.2173C>T (p.Gln725Ter)
NM_001164508.2(NEB):c.22099del (p.Thr7367fs)
NM_001193329.3(AOPEP):c.703C>T (p.Gln235Ter)
NM_001244008.2(KIF1A):c.3901+415C>T
NM_001371623.1(TCOF1):c.1849_1850del (p.Ser617fs)
NM_001384732.1(CPLANE1):c.7588+3A>G
NM_001393769.1(MED12L):c.348G>A (p.Trp116Ter)
NM_001605.3(AARS1):c.479+1G>T
NM_001844.5(COL2A1):c.2725G>A (p.Gly909Ser)
NM_002010.3(FGF9):c.430T>C (p.Trp144Arg)
NM_002076.4(GNS):c.1200+1G>T
NM_003000.3(SDHB):c.424-79_424-2del
NM_003611.3(OFD1):c.412+2_412+5del
NM_004429.5(EFNB1):c.67del (p.Arg23fs)
NM_004937.3(CTNS):c.785G>A (p.Trp262Ter)
NM_005529.7(HSPG2):c.1030T>C (p.Cys344Arg)
NM_005591.4(MRE11):c.1222dup (p.Thr408fs) rs774440500
NM_006087.4(TUBB4A):c.1099T>C (p.Phe367Leu) rs886041018
NM_006757.4(TNNT3):c.188G>A (p.Arg63His) rs121434638
NM_006852.6(TLK2):c.890G>A (p.Gly297Asp) rs1555639254
NM_015570.4(AUTS2):c.1018C>T (p.Gln340Ter) rs2129556993
NM_016604.4(KDM3B):c.1881del (p.Lys627fs)
NM_017635.5(KMT5B):c.2422_2425del (p.Leu808fs) rs2153039957
NM_021005.4(NR2F2):c.1019del (p.Lys340fs)
NM_022575.4(VPS16):c.143-2A>T
NM_024577.4(SH3TC2):c.1834G>T (p.Glu612Ter)
NM_138927.4(SON):c.3101_3113del (p.Met1034fs)
NM_198880.3(QRICH1):c.2207G>A (p.Ser736Asn) rs2093229974

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.