ClinVar Miner

List of variants in gene CDHR1 reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 70
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_033100.4(CDHR1):c.1485+2T>C rs767366723 0.00006
NM_033100.4(CDHR1):c.525+1G>A rs373412516 0.00006
NM_033100.4(CDHR1):c.562G>A (p.Gly188Ser) rs748412274 0.00006
NM_033100.4(CDHR1):c.1219C>T (p.Arg407Ter) rs373978786 0.00004
NM_033100.4(CDHR1):c.295del (p.Glu99fs) rs867166472 0.00004
NM_033100.4(CDHR1):c.1A>G (p.Met1Val) rs794726954 0.00003
NM_033100.4(CDHR1):c.18G>A (p.Trp6Ter) rs1220602138 0.00002
NM_033100.4(CDHR1):c.257del (p.Thr86fs) rs1274804688 0.00002
NM_033100.4(CDHR1):c.524dup (p.Asn176fs) rs781781440 0.00002
NM_033100.4(CDHR1):c.1342dup (p.Thr448fs) rs750895925 0.00001
NM_033100.4(CDHR1):c.1720C>G (p.Pro574Ala) rs746501731 0.00001
NM_033100.4(CDHR1):c.1744A>T (p.Lys582Ter) rs142980820 0.00001
NM_033100.4(CDHR1):c.954_958del (p.His319fs) rs760608593 0.00001
NC_000010.10:g.(?_85954517)_(85955365_?)del
NC_000010.10:g.(?_85954517)_(85957612_?)del
NC_000010.10:g.(?_85954517)_(85960443_?)del
NM_001171971.3(CDHR1):c.2087_2090del (p.Thr696fs) rs1589313739
NM_033100.4(CDHR1):c.1000C>T (p.Gln334Ter) rs1340364290
NM_033100.4(CDHR1):c.1040del (p.Asn347fs)
NM_033100.4(CDHR1):c.1168-1G>A
NM_033100.4(CDHR1):c.121_122del (p.Leu41fs)
NM_033100.4(CDHR1):c.1220del (p.Arg407fs) rs1842277745
NM_033100.4(CDHR1):c.1233del (p.Thr412fs)
NM_033100.4(CDHR1):c.1305del (p.Val436fs)
NM_033100.4(CDHR1):c.1311_1316del (p.Leu437_Thr438del)
NM_033100.4(CDHR1):c.1381C>T (p.Gln461Ter) rs1589306127
NM_033100.4(CDHR1):c.1405del (p.Val469fs)
NM_033100.4(CDHR1):c.1463del (p.Gly488fs) rs756678484
NM_033100.4(CDHR1):c.1463dup (p.Ser489fs) rs756678484
NM_033100.4(CDHR1):c.1485+2T>G rs767366723
NM_033100.4(CDHR1):c.1503_1507del (p.Gly502fs) rs1346965647
NM_033100.4(CDHR1):c.1511G>A (p.Trp504Ter) rs74902839
NM_033100.4(CDHR1):c.1516G>T (p.Glu506Ter) rs547812313
NM_033100.4(CDHR1):c.1527T>G (p.Tyr509Ter) rs1477733493
NM_033100.4(CDHR1):c.1570_1592del (p.Ser524fs)
NM_033100.4(CDHR1):c.1632C>A (p.Tyr544Ter)
NM_033100.4(CDHR1):c.1664dup (p.Lys556fs)
NM_033100.4(CDHR1):c.1696dup (p.Leu566fs)
NM_033100.4(CDHR1):c.1709del (p.Asn570fs)
NM_033100.4(CDHR1):c.1782+1del rs1589307705
NM_033100.4(CDHR1):c.17G>A (p.Trp6Ter)
NM_033100.4(CDHR1):c.193_194dup (p.Asp65fs) rs749926328
NM_033100.4(CDHR1):c.1956del (p.Trp652fs)
NM_033100.4(CDHR1):c.1991del (p.Pro664fs)
NM_033100.4(CDHR1):c.1A>T (p.Met1Leu) rs794726954
NM_033100.4(CDHR1):c.2038G>T (p.Glu680Ter)
NM_033100.4(CDHR1):c.2040+5G>T
NM_033100.4(CDHR1):c.2071_2072delinsTA (p.Leu691Ter)
NM_033100.4(CDHR1):c.2087_2090del (p.Asp696fs)
NM_033100.4(CDHR1):c.2108del (p.Gly703fs) rs2132836781
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_033100.4(CDHR1):c.338del (p.Gly113fs) rs747425652
NM_033100.4(CDHR1):c.355G>T (p.Glu119Ter) rs531420059
NM_033100.4(CDHR1):c.413del (p.Glu138fs) rs2132795062
NM_033100.4(CDHR1):c.438+1G>A
NM_033100.4(CDHR1):c.516del (p.Phe173fs)
NM_033100.4(CDHR1):c.523C>T (p.Gln175Ter) rs1486109432
NM_033100.4(CDHR1):c.525+1G>T rs373412516
NM_033100.4(CDHR1):c.580del (p.Ala194fs) rs2132803759
NM_033100.4(CDHR1):c.610del (p.Arg204fs) rs1343744787
NM_033100.4(CDHR1):c.616del (p.His206fs) rs1183979115
NM_033100.4(CDHR1):c.713del (p.Asp238fs)
NM_033100.4(CDHR1):c.74del (p.Pro25fs)
NM_033100.4(CDHR1):c.768C>G (p.Tyr256Ter) rs769081286
NM_033100.4(CDHR1):c.782del (p.Pro261fs) rs1842160172
NM_033100.4(CDHR1):c.838C>T (p.Arg280Ter) rs191858417
NM_033100.4(CDHR1):c.850del (p.Ser284fs)
NM_033100.4(CDHR1):c.863-1G>A rs886041900
NM_033100.4(CDHR1):c.928C>T (p.Gln310Ter) rs1842216995

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.