ClinVar Miner

List of variants in gene combination NEB, RIF1 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 33
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.*212T>C rs1061317 0.00811
NM_001164508.2(NEB):c.24208-7C>T rs113048349 0.00793
NM_001164508.2(NEB):c.22122C>G (p.Asp7374Glu) rs192402741 0.00334
NM_001164508.2(NEB):c.*201A>T rs190132249 0.00311
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met) rs78592085 0.00208
NM_001164508.2(NEB):c.21685G>C (p.Asp7229His) rs201979610 0.00182
NM_001164508.2(NEB):c.21720C>T (p.Tyr7240=) rs34718443 0.00165
NM_001164508.2(NEB):c.22878C>A (p.Ala7626=) rs185574478 0.00145
NM_001164508.2(NEB):c.23776C>T (p.Pro7926Ser) rs193224180 0.00140
NM_001164508.2(NEB):c.25035C>T (p.Asp8345=) rs201825451 0.00123
NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr) rs201767727 0.00108
NM_001164508.2(NEB):c.22005G>A (p.Thr7335=) rs201400523 0.00072
NM_001164508.2(NEB):c.25038A>G (p.Gln8346=) rs184319249 0.00069
NM_001164508.2(NEB):c.23141G>A (p.Arg7714Gln) rs200963111 0.00064
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_001164508.2(NEB):c.21751C>G (p.Gln7251Glu) rs373946758 0.00035
NM_001164508.2(NEB):c.22647G>A (p.Glu7549=) rs201688876 0.00029
NM_001164508.2(NEB):c.23013C>T (p.Ser7671=) rs370873040 0.00029
NM_001164508.2(NEB):c.21757G>A (p.Glu7253Lys) rs745791097 0.00009
NM_001164508.2(NEB):c.22590+2T>C rs200449517 0.00009
NM_001164508.2(NEB):c.22591-6A>G rs758209784 0.00004
NM_001164507.2(NEB):c.21363A>G (p.Val7121=) rs202172327 0.00001
NM_001164508.2(NEB):c.21906C>T (p.Asn7302=) rs757845188 0.00001
NM_001164508.2(NEB):c.22104A>T (p.Thr7368=) rs756011050 0.00001
NM_001164508.2(NEB):c.23987A>T (p.Glu7996Val) rs1312647029 0.00001
NM_001164508.2(NEB):c.21584C>T (p.Thr7195Ile)
NM_001164508.2(NEB):c.21712G>A (p.Asp7238Asn)
NM_001164508.2(NEB):c.22479G>C (p.Gln7493His) rs1474341248
NM_001164508.2(NEB):c.23537A>C (p.Asn7846Thr)
NM_001164508.2(NEB):c.24177_24178del (p.Arg8059fs) rs1266535163
NM_001164508.2(NEB):c.24872C>T (p.Thr8291Met)
NM_001164508.2(NEB):c.25129C>T (p.Arg8377Ter) rs777232352
NM_001164508.2(NEB):c.25155A>G (p.Gln8385=) rs1432279381

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.