ClinVar Miner

List of variants studied for DNA repair disease by GeneReviews

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 83
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HGVS dbSNP
NM_000051.3(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.3(ATM):c.1562_1563GA[1] (p.Glu522fs) rs587779817
NM_000051.3(ATM):c.1A>G (p.Met1Val) rs730881359
NM_000051.3(ATM):c.2282_2283CT[1] (p.Leu762fs) rs587781658
NM_000051.3(ATM):c.2T>C (p.Met1Thr) rs786203606
NM_000051.3(ATM):c.3245_3247delinsTGAT (p.His1082fs) rs587776549
NM_000051.3(ATM):c.6154G>A (p.Glu2052Lys) rs202206540
NM_000051.3(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.3(ATM):c.6679C>T (p.Arg2227Cys) rs564652222
NM_000051.3(ATM):c.7517_7520delGAGA rs587781905
NM_000051.3(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000051.3(ATM):c.7881_7885TATTA[1] (p.Ile2629fs) rs1450394308
NM_000051.3(ATM):c.8147T>C (p.Val2716Ala) rs587782652
NM_000051.3(ATM):c.8494C>T (p.Arg2832Cys) rs587779872
NM_000051.3(ATM):c.8786+1G>A rs17174393
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000057.4(BLM):c.2407dup (p.Trp803fs) rs367543012
NM_000135.2(FANCA):c.3788_3790delTCT (p.Phe1263del) rs397507553
NM_000135.4(FANCA):c.1111_1114TTGG[1] (p.Val372fs) rs397507552
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784
NM_000136.3(FANCC):c.456+4A>T rs104886456
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000380.3(XPA):c.335_338delinsCATAAGAAA (p.Phe112_Met113delinsSerTer) rs886039226
NM_000380.3(XPA):c.390-1G>C rs750218942
NM_000380.3(XPA):c.682C>T (p.Arg228Ter) rs104894132
NM_000400.3(ERCC2):c.2047C>T (p.Arg683Trp) rs41556519
NM_000400.3(ERCC2):c.2048G>A (p.Arg683Gln) rs758439420
NM_001291970.2(POLH):c.*348del rs886039225
NM_001351834.2(ATM):c.5763-1050A>G rs774925473
NM_001983.4(ERCC1):c.676A>T (p.Lys226Ter) rs886039224
NM_001983.4(ERCC1):c.693C>G (p.Phe231Leu) rs121913028
NM_002485.4(NBN):c.1089C>A (p.Tyr363Ter) rs121908974
NM_002485.4(NBN):c.1125G>A (p.Trp375Ter) rs1057519588
NM_002485.4(NBN):c.1142del (p.Pro381fs) rs587781969
NM_002485.4(NBN):c.330T>G (p.Tyr110Ter) rs1057519585
NM_002485.4(NBN):c.643C>T (p.Arg215Trp) rs34767364
NM_002485.4(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002485.4(NBN):c.681del (p.Phe227fs) rs1057519586
NM_002485.4(NBN):c.698_701del (p.Lys233fs) rs587780100
NM_002485.4(NBN):c.741_742dup (p.Glu248fs) rs864309670
NM_002485.4(NBN):c.836_839del (p.Gln279fs) rs864309668
NM_002485.4(NBN):c.842dup (p.Leu281fs) rs864309669
NM_002485.4(NBN):c.900_924del (p.Gly301fs) rs1057519587
NM_002485.4(NBN):c.976C>T (p.Gln326Ter) rs121908973
NM_004628.4(XPC):c.1639_1640TG[2] (p.Val548fs) rs754532049
NM_004629.1(FANCG):c.1183_1192del (p.Glu395fs) rs397507559
NM_004629.1(FANCG):c.1480+1G>C rs149616199
NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs) rs397507560
NM_004629.1(FANCG):c.307+1G>C rs200479612
NM_004629.1(FANCG):c.925-2A>G rs397507561
NM_006502.2(POLH):c.1075-?_1244+?del
NM_006502.2(POLH):c.490G>T (p.Glu164Ter) rs767433001
NM_006502.2(POLH):c.725C>G (p.Ser242Ter) rs745778317
NM_006502.2(POLH):c.764+1G>A rs772570523
NM_006502.2(POLH):c.916G>T (p.Glu306Ter) rs121908562
c.1120C>T
c.2249ins9
c.2639del200nt
c.2810_2811insCTAG
c.2851-10T>G
c.3576G>A
c.3802delG
c.3894dupT
c.4507C>T
c.4852C>T
c.5390+2T>C
c.5395-12A>G
c.5908C>T
c.5932G>T
c.6095G>A
c.6404_6405insTT
c.7010_7011del
c.7271T>G
c.7327C>T
c.7449G>A
c.7883_7887del5
c.7926A>C
c.8201_8212del11ins6
c.8264_8268del5
c.8313-2A>C
c.9372+1G>A

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