ClinVar Miner

List of variants in gene RNASEH2C reported as uncertain significance for autosomal recessive disease

Included ClinVar conditions (1196):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 103
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_032193.4(RNASEH2C):c.417C>G (p.Gly139=) rs147021687 0.00229
NM_032193.4(RNASEH2C):c.268A>G (p.Lys90Glu) rs200659526 0.00016
NM_032193.4(RNASEH2C):c.269A>T (p.Lys90Met) rs772347588 0.00016
NM_032193.4(RNASEH2C):c.358A>G (p.Ile120Val) rs145783593 0.00008
NM_032193.3(RNASEH2C):c.-186A>C rs931060333 0.00007
NM_032193.4(RNASEH2C):c.175C>A (p.Leu59Ile) rs764887792 0.00004
NM_032193.4(RNASEH2C):c.305C>T (p.Ser102Phe) rs779295406 0.00004
NM_032193.4(RNASEH2C):c.434G>T (p.Arg145Leu) rs774773395 0.00004
NM_032193.4(RNASEH2C):c.*29A>G rs886048499 0.00003
NM_032193.4(RNASEH2C):c.472C>G (p.His158Asp) rs759118175 0.00003
NM_032193.4(RNASEH2C):c.348+6C>T rs779293116 0.00002
NM_032193.4(RNASEH2C):c.*178C>G rs3180585 0.00001
NM_032193.4(RNASEH2C):c.*27C>G rs886048500 0.00001
NM_032193.4(RNASEH2C):c.10G>C (p.Gly4Arg) rs1857363681 0.00001
NM_032193.4(RNASEH2C):c.15C>A (p.Asp5Glu) rs1310807864 0.00001
NM_032193.4(RNASEH2C):c.173-14G>A rs886048502 0.00001
NM_032193.4(RNASEH2C):c.20C>T (p.Ala7Val) rs767413437 0.00001
NM_032193.4(RNASEH2C):c.221C>T (p.Ala74Val) rs1284081456 0.00001
NM_032193.4(RNASEH2C):c.223G>A (p.Val75Met) rs1857352830 0.00001
NM_032193.4(RNASEH2C):c.227C>T (p.Pro76Leu) rs76091978 0.00001
NM_032193.4(RNASEH2C):c.348+1G>A rs747248530 0.00001
NM_032193.4(RNASEH2C):c.371C>T (p.Ala124Val) rs751248914 0.00001
NM_032193.4(RNASEH2C):c.374A>G (p.Asn125Ser) rs143452727 0.00001
NM_032193.4(RNASEH2C):c.377T>G (p.Phe126Cys) rs1426277096 0.00001
NM_032193.4(RNASEH2C):c.455G>A (p.Ser152Asn) rs781376271 0.00001
NM_032193.4(RNASEH2C):c.463G>A (p.Ala155Thr) rs757866333 0.00001
NM_032193.4(RNASEH2C):c.472C>T (p.His158Tyr) rs759118175 0.00001
NM_032193.4(RNASEH2C):c.491A>G (p.Asp164Gly) rs771823743 0.00001
NC_000011.10:g.65720153_65720165del
NM_032193.3(RNASEH2C):c.-89C>G rs886048503
NM_032193.4(RNASEH2C):c.*45_*46insG rs886048498
NM_032193.4(RNASEH2C):c.*78A>G rs1857332269
NM_032193.4(RNASEH2C):c.-27G>T rs549471118
NM_032193.4(RNASEH2C):c.10G>A (p.Gly4Ser) rs1857363681
NM_032193.4(RNASEH2C):c.173-4C>G rs886048501
NM_032193.4(RNASEH2C):c.175C>G (p.Leu59Val)
NM_032193.4(RNASEH2C):c.178G>A (p.Glu60Lys)
NM_032193.4(RNASEH2C):c.178dup (p.Glu60fs) rs772940104
NM_032193.4(RNASEH2C):c.193G>A (p.Gly65Ser)
NM_032193.4(RNASEH2C):c.194G>A (p.Gly65Asp)
NM_032193.4(RNASEH2C):c.194G>T (p.Gly65Val)
NM_032193.4(RNASEH2C):c.196C>T (p.Arg66Cys) rs2135653318
NM_032193.4(RNASEH2C):c.202C>G (p.Leu68Val) rs1427683229
NM_032193.4(RNASEH2C):c.223G>C (p.Val75Leu)
NM_032193.4(RNASEH2C):c.22G>C (p.Ala8Pro) rs2135654514
NM_032193.4(RNASEH2C):c.233G>C (p.Gly78Ala)
NM_032193.4(RNASEH2C):c.235C>G (p.Leu79Val) rs1857352526
NM_032193.4(RNASEH2C):c.244T>C (p.Tyr82His)
NM_032193.4(RNASEH2C):c.245A>G (p.Tyr82Cys) rs2135653148
NM_032193.4(RNASEH2C):c.251T>C (p.Met84Thr)
NM_032193.4(RNASEH2C):c.254T>G (p.Val85Gly)
NM_032193.4(RNASEH2C):c.259G>A (p.Glu87Lys)
NM_032193.4(RNASEH2C):c.260A>G (p.Glu87Gly) rs939276490
NM_032193.4(RNASEH2C):c.261A>C (p.Glu87Asp) rs1857351791
NM_032193.4(RNASEH2C):c.264_268del (p.Lys89fs)
NM_032193.4(RNASEH2C):c.268_269delinsGT (p.Lys90Val) rs1565213438
NM_032193.4(RNASEH2C):c.269A>C (p.Lys90Thr) rs772347588
NM_032193.4(RNASEH2C):c.271G>T (p.Val91Leu)
NM_032193.4(RNASEH2C):c.289G>A (p.Asp97Asn) rs771160923
NM_032193.4(RNASEH2C):c.292C>G (p.Pro98Ala) rs148186114
NM_032193.4(RNASEH2C):c.292C>T (p.Pro98Ser) rs148186114
NM_032193.4(RNASEH2C):c.297G>C (p.Leu99Phe) rs1390405064
NM_032193.4(RNASEH2C):c.307G>A (p.Gly103Arg) rs766900205
NM_032193.4(RNASEH2C):c.307G>C (p.Gly103Arg)
NM_032193.4(RNASEH2C):c.311C>T (p.Thr104Ile) rs1318717066
NM_032193.4(RNASEH2C):c.316G>A (p.Asp106Asn) rs1379430577
NM_032193.4(RNASEH2C):c.31A>G (p.Arg11Gly) rs1857363170
NM_032193.4(RNASEH2C):c.322G>A (p.Glu108Lys)
NM_032193.4(RNASEH2C):c.322GAG[2] (p.Glu110del)
NM_032193.4(RNASEH2C):c.328G>A (p.Glu110Lys) rs759057632
NM_032193.4(RNASEH2C):c.328_329delinsCC (p.Glu110Pro)
NM_032193.4(RNASEH2C):c.32G>A (p.Arg11Lys)
NM_032193.4(RNASEH2C):c.332C>T (p.Pro111Leu) rs113396656
NM_032193.4(RNASEH2C):c.343G>A (p.Asp115Asn)
NM_032193.4(RNASEH2C):c.348C>G (p.Phe116Leu) rs1314714026
NM_032193.4(RNASEH2C):c.349G>C (p.Asp117His)
NM_032193.4(RNASEH2C):c.355T>C (p.Phe119Leu) rs2135652511
NM_032193.4(RNASEH2C):c.35A>C (p.His12Pro) rs765558776
NM_032193.4(RNASEH2C):c.364G>A (p.Ala122Thr)
NM_032193.4(RNASEH2C):c.398G>A (p.Gly133Asp) rs2135652409
NM_032193.4(RNASEH2C):c.400C>G (p.Leu134Val)
NM_032193.4(RNASEH2C):c.404A>G (p.Glu135Gly)
NM_032193.4(RNASEH2C):c.419C>A (p.Pro140Gln)
NM_032193.4(RNASEH2C):c.425C>G (p.Ala142Gly) rs1857345402
NM_032193.4(RNASEH2C):c.434G>C (p.Arg145Pro) rs774773395
NM_032193.4(RNASEH2C):c.437G>C (p.Gly146Ala)
NM_032193.4(RNASEH2C):c.439G>A (p.Ala147Thr) rs1388954201
NM_032193.4(RNASEH2C):c.440C>T (p.Ala147Val) rs2135652251
NM_032193.4(RNASEH2C):c.446C>G (p.Thr149Ser)
NM_032193.4(RNASEH2C):c.451C>T (p.Pro151Ser) rs78464826
NM_032193.4(RNASEH2C):c.452C>T (p.Pro151Leu) rs2135652204
NM_032193.4(RNASEH2C):c.455G>T (p.Ser152Ile) rs781376271
NM_032193.4(RNASEH2C):c.468+5G>A rs753880827
NM_032193.4(RNASEH2C):c.468+5G>C rs753880827
NM_032193.4(RNASEH2C):c.468+8G>A rs751767695
NM_032193.4(RNASEH2C):c.469-14_469-9del
NM_032193.4(RNASEH2C):c.470T>A (p.Ile157Asn)
NM_032193.4(RNASEH2C):c.473_474del (p.His158fs)
NM_032193.4(RNASEH2C):c.478C>A (p.Gln160Lys)
NM_032193.4(RNASEH2C):c.482T>C (p.Val161Ala) rs2135651271
NM_032193.4(RNASEH2C):c.491A>T (p.Asp164Val) rs771823743
NM_032193.4(RNASEH2C):c.495A>C (p.Ter165Cys) rs749473518
NM_032193.4(RNASEH2C):c.5A>C (p.Glu2Ala)

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.