ClinVar Miner

List of variants reported as pathogenic for DNA repair disease by Mendelics

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP
NM_000051.3(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.3(ATM):c.1236-2A>G rs80159221
NM_000051.3(ATM):c.1495C>T (p.Gln499Ter) rs1555071075
NM_000051.3(ATM):c.1745_1749del (p.Phe582fs) rs1565385883
NM_000051.3(ATM):c.2413C>T (p.Arg805Ter) rs780619951
NM_000051.3(ATM):c.3270_3271AG[1] (p.Glu1091fs) rs1565429102
NM_000051.3(ATM):c.3576G>A (p.Lys1192=) rs587776551
NM_000051.3(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.3(ATM):c.4396C>T (p.Arg1466Ter) rs730881369
NM_000051.3(ATM):c.4587T>G (p.Tyr1529Ter) rs1555100005
NM_000051.3(ATM):c.4776+2T>C rs587781927
NM_000051.3(ATM):c.5712dup (p.Ser1905fs) rs587781730
NM_000051.3(ATM):c.6404dup (p.Arg2136fs) rs587782554
NM_000051.3(ATM):c.640del (p.Ser214fs) rs786204543
NM_000051.3(ATM):c.6679C>T (p.Arg2227Cys) rs564652222
NM_000051.3(ATM):c.748C>T (p.Arg250Ter) rs772821016
NM_000051.3(ATM):c.7630-2A>C rs587779866
NM_000051.3(ATM):c.7789-3T>G rs864622185
NM_000051.3(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000051.3(ATM):c.7881_7885TATTA[1] (p.Ile2629fs) rs1450394308
NM_000051.3(ATM):c.7913G>A (p.Trp2638Ter) rs377349459
NM_000051.3(ATM):c.8264_8268del (p.Tyr2755fs) rs730881294
NM_000051.3(ATM):c.8292_8293del (p.Ser2764fs) rs879254036
NM_000051.3(ATM):c.8484del (p.Gln2828fs) rs1565563579
NM_000051.3(ATM):c.8494C>T (p.Arg2832Cys) rs587779872
NM_000051.3(ATM):c.9022C>T (p.Arg3008Cys) rs587782292
NM_000057.4(BLM):c.1043dup (p.Met348fs) rs1567038003
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000057.4(BLM):c.2258T>A (p.Leu753Ter) rs1400231534
NM_000057.4(BLM):c.296_297CA[1] (p.Gln100fs) rs745807085
NM_000136.3(FANCC):c.1393C>T (p.Gln465Ter)
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457
NM_000136.3(FANCC):c.456+4A>T rs104886456
NM_000136.3(FANCC):c.519del (p.Arg173fs) rs1564719070
NM_002485.4(NBN):c.156_157del (p.Ser53fs) rs767454740
NM_002485.4(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_032043.2(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986
NM_032043.2(BRIP1):c.2990_2993delCAAA rs771028677
NM_032043.2(BRIP1):c.30del (p.Ile10fs) rs1567878234

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