ClinVar Miner

List of variants in gene combination ATM, C11orf65 reported as uncertain significance by Color

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 401
Download table as spreadsheet
HGVS dbSNP
NM_000051.3(ATM):c.*16T>G rs1362987304
NM_000051.3(ATM):c.*17T>G rs746451875
NM_000051.3(ATM):c.*19C>T rs1338371572
NM_000051.3(ATM):c.*9del rs1565609967
NM_000051.3(ATM):c.5764C>T (p.Pro1922Ser) rs587781865
NM_000051.3(ATM):c.5765C>A (p.Pro1922His) rs751792004
NM_000051.3(ATM):c.5774G>A (p.Gly1925Glu) rs755055090
NM_000051.3(ATM):c.5776_5790del (p.Thr1926_Asp1930del) rs786203678
NM_000051.3(ATM):c.5810A>G (p.Asn1937Ser) rs1555110330
NM_000051.3(ATM):c.5816T>A (p.Leu1939Gln) rs1555110340
NM_000051.3(ATM):c.5821G>C (p.Val1941Leu) rs147187700
NM_000051.3(ATM):c.5825C>T (p.Ala1942Val) rs730881394
NM_000051.3(ATM):c.5852A>C (p.His1951Pro) rs1164569755
NM_000051.3(ATM):c.5866C>T (p.Leu1956Phe) rs1565489956
NM_000051.3(ATM):c.5867T>A (p.Leu1956His) rs876658989
NM_000051.3(ATM):c.5882A>G (p.Tyr1961Cys) rs56399311
NM_000051.3(ATM):c.5890A>G (p.Lys1964Glu) rs201963507
NM_000051.3(ATM):c.5897G>A (p.Ser1966Asn) rs1555110520
NM_000051.3(ATM):c.5899A>G (p.Met1967Val) rs1060501541
NM_000051.3(ATM):c.5909A>G (p.Gln1970Arg) rs1555110568
NM_000051.3(ATM):c.5917A>G (p.Arg1973Gly) rs786202089
NM_000051.3(ATM):c.5918G>A (p.Arg1973Lys) rs1555110591
NM_000051.3(ATM):c.5919-10T>C rs1565493312
NM_000051.3(ATM):c.5930T>C (p.Phe1977Ser) rs780867575
NM_000051.3(ATM):c.5945A>G (p.Gln1982Arg) rs543980602
NM_000051.3(ATM):c.5973A>C (p.Glu1991Asp) rs587782274
NM_000051.3(ATM):c.5975A>G (p.Lys1992Arg) rs150757822
NM_000051.3(ATM):c.5983G>A (p.Glu1995Lys) rs1555111886
NM_000051.3(ATM):c.5994A>T (p.Gly1998=) rs56046250
NM_000051.3(ATM):c.6006+6T>C rs1565493858
NM_000051.3(ATM):c.6010C>T (p.Leu2004Phe) rs1060501561
NM_000051.3(ATM):c.6025T>C (p.Tyr2009His) rs199586999
NM_000051.3(ATM):c.6056A>G (p.Tyr2019Cys) rs876658415
NM_000051.3(ATM):c.6068G>A (p.Gly2023Glu) rs1486220915
NM_000051.3(ATM):c.6095+5del rs1555113628
NM_000051.3(ATM):c.6101G>A (p.Arg2034Gln) rs3218670
NM_000051.3(ATM):c.6103A>G (p.Thr2035Ala) rs876659555
NM_000051.3(ATM):c.6114C>G (p.His2038Gln) rs774993357
NM_000051.3(ATM):c.6115G>A (p.Glu2039Lys) rs864622251
NM_000051.3(ATM):c.6119C>T (p.Ala2040Val) rs1299506506
NM_000051.3(ATM):c.6121A>G (p.Met2041Val) rs759753186
NM_000051.3(ATM):c.6154G>A (p.Glu2052Lys) rs202206540
NM_000051.3(ATM):c.6163A>G (p.Ile2055Val) rs758038580
NM_000051.3(ATM):c.6167C>T (p.Pro2056Leu) rs1565499875
NM_000051.3(ATM):c.6178C>A (p.Arg2060Ser) rs587778078
NM_000051.3(ATM):c.6178C>T (p.Arg2060Cys) rs587778078
NM_000051.3(ATM):c.6179G>A (p.Arg2060His) rs376521407
NM_000051.3(ATM):c.6179G>C (p.Arg2060Pro) rs376521407
NM_000051.3(ATM):c.6194T>C (p.Ile2065Thr) rs372838622
NM_000051.3(ATM):c.6197A>G (p.Gln2066Arg) rs1565500074
NM_000051.3(ATM):c.6198+3A>G rs786202092
NM_000051.3(ATM):c.6199-5T>A rs1555114533
NM_000051.3(ATM):c.6199G>A (p.Ala2067Thr) rs1555114549
NM_000051.3(ATM):c.6203T>C (p.Leu2068Ser) rs1555114558
NM_000051.3(ATM):c.6214G>A (p.Gly2072Arg) rs1555114568
NM_000051.3(ATM):c.6217C>T (p.Leu2073Phe) rs767406075
NM_000051.3(ATM):c.6224A>G (p.His2075Arg) rs1555114602
NM_000051.3(ATM):c.6226A>G (p.Ile2076Val) rs755973863
NM_000051.3(ATM):c.6232T>C (p.Ser2078Pro) rs587779854
NM_000051.3(ATM):c.6239A>G (p.Tyr2080Cys) rs587779855
NM_000051.3(ATM):c.6244A>G (p.Lys2082Glu) rs1239942908
NM_000051.3(ATM):c.6247G>A (p.Gly2083Arg) rs1060501586
NM_000051.3(ATM):c.6253G>T (p.Asp2085Tyr) rs730881379
NM_000051.3(ATM):c.6257A>T (p.Tyr2086Phe) rs730881380
NM_000051.3(ATM):c.6260A>G (p.Glu2087Gly) rs1565503023
NM_000051.3(ATM):c.6262A>G (p.Asn2088Asp) rs1205444700
NM_000051.3(ATM):c.6270C>A (p.Asp2090Glu) rs1565503097
NM_000051.3(ATM):c.6277C>T (p.Pro2093Ser) rs946942912
NM_000051.3(ATM):c.6283_6288del (p.Leu2095_Glu2096del) rs1565503206
NM_000051.3(ATM):c.6287A>G (p.Glu2096Gly) rs1565503246
NM_000051.3(ATM):c.6293T>C (p.Leu2098Pro) rs587780631
NM_000051.3(ATM):c.6304G>A (p.Ala2102Thr) rs1565503340
NM_000051.3(ATM):c.6315G>C (p.Arg2105Ser) rs587780632
NM_000051.3(ATM):c.6317A>T (p.Asn2106Ile) rs587780633
NM_000051.3(ATM):c.6323A>G (p.Gln2108Arg) rs773891864
NM_000051.3(ATM):c.6332A>G (p.His2111Arg) rs876658300
NM_000051.3(ATM):c.6343G>A (p.Val2115Ile) rs587780634
NM_000051.3(ATM):c.6343G>C (p.Val2115Leu) rs587780634
NM_000051.3(ATM):c.6355G>T (p.Val2119Leu) rs1266938537
NM_000051.3(ATM):c.6367A>G (p.Ser2123Gly) rs876659773
NM_000051.3(ATM):c.6374A>T (p.His2125Leu) rs730881381
NM_000051.3(ATM):c.6383T>C (p.Leu2128Ser) rs1565508867
NM_000051.3(ATM):c.6385T>C (p.Tyr2129His) rs876658542
NM_000051.3(ATM):c.6400T>C (p.Ser2134Pro) rs758446561
NM_000051.3(ATM):c.6411C>G (p.Asp2137Glu) rs780299607
NM_000051.3(ATM):c.6418T>C (p.Phe2140Leu) rs1397647612
NM_000051.3(ATM):c.6420C>A (p.Phe2140Leu) rs587780635
NM_000051.3(ATM):c.6424A>G (p.Thr2142Ala) rs1263398076
NM_000051.3(ATM):c.6431A>G (p.Tyr2144Cys) rs1555116507
NM_000051.3(ATM):c.6434A>C (p.Glu2145Ala) rs1255710647
NM_000051.3(ATM):c.6443A>G (p.Lys2148Arg) rs730881382
NM_000051.3(ATM):c.6452+6A>T rs878853531
NM_000051.3(ATM):c.6453-14T>A rs1380071831
NM_000051.3(ATM):c.6457A>C (p.Lys2153Gln) rs1386239935
NM_000051.3(ATM):c.6473T>C (p.Met2158Thr) rs1453101465
NM_000051.3(ATM):c.6475T>G (p.Cys2159Gly) rs150408832
NM_000051.3(ATM):c.6477T>G (p.Cys2159Trp) rs587781789
NM_000051.3(ATM):c.6482G>A (p.Arg2161His) rs756626462
NM_000051.3(ATM):c.6490G>A (p.Glu2164Lys) rs1317619286
NM_000051.3(ATM):c.6497T>C (p.Val2166Ala) rs1232551114
NM_000051.3(ATM):c.6500A>G (p.Tyr2167Cys) rs768155385
NM_000051.3(ATM):c.6503C>T (p.Ser2168Leu) rs200431631
NM_000051.3(ATM):c.6506T>G (p.Leu2169Arg) rs748054311
NM_000051.3(ATM):c.6527T>G (p.Leu2176Trp) rs1555117194
NM_000051.3(ATM):c.6536T>C (p.Ile2179Thr) rs878853532
NM_000051.3(ATM):c.6537T>G (p.Ile2179Met) rs146243469
NM_000051.3(ATM):c.6543G>T (p.Glu2181Asp) rs138828590
NM_000051.3(ATM):c.6545T>C (p.Leu2182Pro) rs1555117233
NM_000051.3(ATM):c.6550A>G (p.Ser2184Gly) rs764713766
NM_000051.3(ATM):c.6551G>C (p.Ser2184Thr) rs374551964
NM_000051.3(ATM):c.6554T>C (p.Ile2185Thr) rs779611511
NM_000051.3(ATM):c.6557_6559del (p.Gly2186del) rs1555117257
NM_000051.3(ATM):c.6562C>A (p.Leu2188Ile) rs1060501682
NM_000051.3(ATM):c.6571A>G (p.Arg2191Gly) rs587781861
NM_000051.3(ATM):c.6573-11G>A rs375599653
NM_000051.3(ATM):c.6573A>G (p.Arg2191=) rs1565518004
NM_000051.3(ATM):c.6577G>A (p.Val2193Ile) rs754555043
NM_000051.3(ATM):c.6581C>T (p.Thr2194Ile) rs1476384636
NM_000051.3(ATM):c.6583C>T (p.His2195Tyr) rs780946471
NM_000051.3(ATM):c.6584A>G (p.His2195Arg) rs1565518051
NM_000051.3(ATM):c.6604T>G (p.Tyr2202Asp) rs730881311
NM_000051.3(ATM):c.6613T>C (p.Trp2205Arg) rs755656958
NM_000051.3(ATM):c.6652A>C (p.Ser2218Arg) rs749261367
NM_000051.3(ATM):c.6667A>G (p.Ile2223Val)
NM_000051.3(ATM):c.6680G>A (p.Arg2227His) rs879254132
NM_000051.3(ATM):c.6686T>A (p.Val2229Asp) rs1555119144
NM_000051.3(ATM):c.6703A>G (p.Met2235Val) rs768791795
NM_000051.3(ATM):c.6718G>C (p.Asp2240His) rs587782478
NM_000051.3(ATM):c.6722A>G (p.Asn2241Ser) rs786202583
NM_000051.3(ATM):c.6727C>A (p.Gln2243Lys) rs1565518711
NM_000051.3(ATM):c.6728A>C (p.Gln2243Pro) rs1565518723
NM_000051.3(ATM):c.6734A>G (p.Glu2245Gly) rs1555119214
NM_000051.3(ATM):c.6739A>C (p.Ile2247Leu) rs587781521
NM_000051.3(ATM):c.6739A>G (p.Ile2247Val) rs587781521
NM_000051.3(ATM):c.6741T>G (p.Ile2247Met) rs876658607
NM_000051.3(ATM):c.6742A>G (p.Lys2248Glu) rs1555119232
NM_000051.3(ATM):c.6745G>T (p.Asp2249Tyr) rs1555119235
NM_000051.3(ATM):c.6755C>G (p.Thr2252Ser) rs755531586
NM_000051.3(ATM):c.6758A>C (p.Lys2253Thr) rs786203332
NM_000051.3(ATM):c.6759A>C (p.Lys2253Asn) rs1060501602
NM_000051.3(ATM):c.6778A>G (p.Ile2260Val) rs1365474284
NM_000051.3(ATM):c.6785C>G (p.Ala2262Gly) rs876660017
NM_000051.3(ATM):c.6794T>G (p.Phe2265Cys) rs1179172483
NM_000051.3(ATM):c.6815A>G (p.Glu2272Gly) rs1565520129
NM_000051.3(ATM):c.6823A>G (p.Ile2275Val) rs587779857
NM_000051.3(ATM):c.6824T>C (p.Ile2275Thr) rs1283858462
NM_000051.3(ATM):c.6827T>G (p.Phe2276Cys) rs753389616
NM_000051.3(ATM):c.6829C>G (p.Gln2277Glu) rs1252906835
NM_000051.3(ATM):c.6831A>T (p.Gln2277His) rs1339794219
NM_000051.3(ATM):c.6841T>C (p.Tyr2281His) rs1291249685
NM_000051.3(ATM):c.6844A>G (p.Asn2282Asp) rs951881516
NM_000051.3(ATM):c.6845A>G (p.Asn2282Ser) rs863224579
NM_000051.3(ATM):c.6848C>T (p.Ser2283Leu) rs876660730
NM_000051.3(ATM):c.6860G>A (p.Gly2287Glu) rs1800061
NM_000051.3(ATM):c.6868G>A (p.Glu2290Lys) rs1479339581
NM_000051.3(ATM):c.6869A>C (p.Glu2290Ala) rs1555119842
NM_000051.3(ATM):c.6871T>C (p.Trp2291Arg) rs746815819
NM_000051.3(ATM):c.6889C>G (p.Gln2297Glu) rs1565520537
NM_000051.3(ATM):c.6891A>G (p.Gln2297=) rs773545588
NM_000051.3(ATM):c.6898T>G (p.Trp2300Gly) rs1565520641
NM_000051.3(ATM):c.6901G>A (p.Ala2301Thr) rs1060501668
NM_000051.3(ATM):c.6908A>C (p.Lys2303Thr) rs1064795166
NM_000051.3(ATM):c.6945G>A (p.Met2315Ile) rs1555120014
NM_000051.3(ATM):c.6952A>C (p.Lys2318Gln) rs1449259481
NM_000051.3(ATM):c.6959A>G (p.Asp2320Gly) rs1060501640
NM_000051.3(ATM):c.6968G>A (p.Cys2323Tyr) rs876660924
NM_000051.3(ATM):c.6974C>T (p.Ala2325Val) rs200940211
NM_000051.3(ATM):c.6975+2T>C rs879254199
NM_000051.3(ATM):c.6975+5G>T rs575354684
NM_000051.3(ATM):c.6975G>A (p.Ala2325=) rs556778314
NM_000051.3(ATM):c.6975G>C (p.Ala2325=) rs556778314
NM_000051.3(ATM):c.6975G>T (p.Ala2325=) rs556778314
NM_000051.3(ATM):c.6976-11T>C rs1565523441
NM_000051.3(ATM):c.6980A>T (p.Asn2327Ile) rs761587154
NM_000051.3(ATM):c.6983C>T (p.Pro2328Leu) rs786202730
NM_000051.3(ATM):c.7000T>C (p.Tyr2334His) rs1064793312
NM_000051.3(ATM):c.7004C>T (p.Thr2335Ile) rs3092831
NM_000051.3(ATM):c.7018G>T (p.Val2340Phe) rs876659429
NM_000051.3(ATM):c.7036G>A (p.Ala2346Thr) rs144497088
NM_000051.3(ATM):c.7071G>T (p.Met2357Ile) rs753951063
NM_000051.3(ATM):c.7078T>C (p.Tyr2360His) rs587779860
NM_000051.3(ATM):c.7088A>T (p.Lys2363Met) rs757293178
NM_000051.3(ATM):c.7090-7C>T rs774223576
NM_000051.3(ATM):c.7099G>A (p.Val2367Ile) rs1060501647
NM_000051.3(ATM):c.7111T>G (p.Tyr2371Asp) rs1555121956
NM_000051.3(ATM):c.7112A>T (p.Tyr2371Phe) rs1565526394
NM_000051.3(ATM):c.7122A>C (p.Glu2374Asp) rs376159946
NM_000051.3(ATM):c.7135C>G (p.Leu2379Val) rs778888033
NM_000051.3(ATM):c.7156G>C (p.Ala2386Pro) rs876659392
NM_000051.3(ATM):c.7166C>T (p.Ser2389Leu) rs1018140779
NM_000051.3(ATM):c.7174C>T (p.Arg2392Trp) rs149827260
NM_000051.3(ATM):c.7189C>G (p.Gln2397Glu) rs747372355
NM_000051.3(ATM):c.7199G>T (p.Arg2400Ile) rs567457294
NM_000051.3(ATM):c.7202T>C (p.Ile2401Thr) rs1555122117
NM_000051.3(ATM):c.7215G>A (p.Met2405Ile) rs879254179
NM_000051.3(ATM):c.7219T>C (p.Ser2407Pro) rs1565526951
NM_000051.3(ATM):c.7223C>T (p.Ser2408Leu) rs730881315
NM_000051.3(ATM):c.7229T>C (p.Phe2410Ser) rs758351633
NM_000051.3(ATM):c.7235A>C (p.Asn2412Thr) rs786203311
NM_000051.3(ATM):c.7235A>G (p.Asn2412Ser) rs786203311
NM_000051.3(ATM):c.7244C>G (p.Ala2415Gly) rs370567994
NM_000051.3(ATM):c.7244C>T (p.Ala2415Val) rs370567994
NM_000051.3(ATM):c.7265A>G (p.Glu2422Gly) rs758614348
NM_000051.3(ATM):c.7280T>C (p.Leu2427Pro) rs1555122272
NM_000051.3(ATM):c.7280T>G (p.Leu2427Arg) rs1555122272
NM_000051.3(ATM):c.7289A>G (p.His2430Arg) rs786202856
NM_000051.3(ATM):c.7290T>G (p.His2430Gln) rs876658715
NM_000051.3(ATM):c.7291A>G (p.Lys2431Glu) rs864622563
NM_000051.3(ATM):c.7307+1_7307+3dup rs1565527496
NM_000051.3(ATM):c.7308-10T>C rs745319720
NM_000051.3(ATM):c.7308-11T>C rs1565529149
NM_000051.3(ATM):c.7308-7A>G rs1476284330
NM_000051.3(ATM):c.7316T>C (p.Val2439Ala) rs776266049
NM_000051.3(ATM):c.7318A>G (p.Lys2440Glu) rs1565529306
NM_000051.3(ATM):c.7328G>A (p.Arg2443Gln) rs587782310
NM_000051.3(ATM):c.7332G>C (p.Glu2444Asp) rs876658886
NM_000051.3(ATM):c.7337A>G (p.Glu2446Gly) rs1555122998
NM_000051.3(ATM):c.7354C>G (p.Leu2452Val) rs587779863
NM_000051.3(ATM):c.7357C>T (p.Arg2453Cys) rs755418571
NM_000051.3(ATM):c.7370A>C (p.Glu2457Ala) rs778482902
NM_000051.3(ATM):c.7375C>G (p.Arg2459Gly) rs730881383
NM_000051.3(ATM):c.7375C>T (p.Arg2459Cys) rs730881383
NM_000051.3(ATM):c.7376G>A (p.Arg2459His) rs1064796589
NM_000051.3(ATM):c.7381C>T (p.Arg2461Cys) rs201314561
NM_000051.3(ATM):c.7382G>A (p.Arg2461His) rs768461085
NM_000051.3(ATM):c.7409A>T (p.Tyr2470Phe) rs878853544
NM_000051.3(ATM):c.7429G>A (p.Gly2477Arg) rs778550056
NM_000051.3(ATM):c.7445_7446delinsCT (p.Met2482Thr) rs1565529987
NM_000051.3(ATM):c.7468C>T (p.Leu2490Phe) rs753262623
NM_000051.3(ATM):c.7475T>G (p.Leu2492Arg) rs56399857
NM_000051.3(ATM):c.7487G>C (p.Gly2496Ala) rs764478418
NM_000051.3(ATM):c.7492T>G (p.Ser2498Ala) rs754245181
NM_000051.3(ATM):c.7498G>A (p.Val2500Ile) rs1555123294
NM_000051.3(ATM):c.7499T>C (p.Val2500Ala) rs779810877
NM_000051.3(ATM):c.7502A>G (p.Asn2501Ser) rs531617441
NM_000051.3(ATM):c.7511T>C (p.Met2504Thr) rs1060501644
NM_000051.3(ATM):c.7515+19A>T rs879254202
NM_000051.3(ATM):c.7516A>G (p.Arg2506Gly) rs200441272
NM_000051.3(ATM):c.7522G>A (p.Gly2508Arg) rs754395517
NM_000051.3(ATM):c.7547T>G (p.Phe2516Cys) rs774312539
NM_000051.3(ATM):c.7552C>T (p.Pro2518Ser) rs374876799
NM_000051.3(ATM):c.7562A>G (p.Tyr2521Cys) rs876660422
NM_000051.3(ATM):c.7566A>G (p.Gln2522=) rs775621333
NM_000051.3(ATM):c.7570G>T (p.Ala2524Ser)
NM_000051.3(ATM):c.7577G>C (p.Arg2526Thr) rs876659323
NM_000051.3(ATM):c.7592T>C (p.Met2531Thr) rs587781365
NM_000051.3(ATM):c.7629+3A>C rs752251778
NM_000051.3(ATM):c.7630-3C>G rs587782448
NM_000051.3(ATM):c.7630-3C>T rs587782448
NM_000051.3(ATM):c.7648A>G (p.Met2550Val) rs878853545
NM_000051.3(ATM):c.7658C>G (p.Pro2553Arg) rs864622368
NM_000051.3(ATM):c.7664A>G (p.His2555Arg) rs876658925
NM_000051.3(ATM):c.7687T>G (p.Leu2563Val) rs1208002418
NM_000051.3(ATM):c.7696G>A (p.Ala2566Thr) rs1060501604
NM_000051.3(ATM):c.7712T>C (p.Phe2571Ser) rs1555124612
NM_000051.3(ATM):c.7718C>G (p.Thr2573Ser) rs1565534068
NM_000051.3(ATM):c.7739G>A (p.Arg2580Lys) rs761790685
NM_000051.3(ATM):c.7744A>G (p.Arg2582Gly) rs750224234
NM_000051.3(ATM):c.7775C>G (p.Ser2592Cys) rs755009196
NM_000051.3(ATM):c.7778A>G (p.Gln2593Arg) rs587779867
NM_000051.3(ATM):c.7793G>T (p.Arg2598Leu) rs140263969
NM_000051.3(ATM):c.7812A>T (p.Arg2604Ser) rs1484346818
NM_000051.3(ATM):c.7813_7815ATA[1] (p.Ile2606del) rs786203830
NM_000051.3(ATM):c.7816A>G (p.Ile2606Val) rs376824528
NM_000051.3(ATM):c.7818A>G (p.Ile2606Met) rs1027959208
NM_000051.3(ATM):c.7819T>C (p.Cys2607Arg) rs1459650575
NM_000051.3(ATM):c.7826T>C (p.Ile2609Thr) rs369846067
NM_000051.3(ATM):c.7840C>T (p.Pro2614Ser) rs1555125305
NM_000051.3(ATM):c.7847T>C (p.Met2616Thr) rs762765902
NM_000051.3(ATM):c.7849G>T (p.Val2617Phe) rs1555125331
NM_000051.3(ATM):c.7877C>T (p.Ala2626Val) rs1555125394
NM_000051.3(ATM):c.7902T>G (p.Asp2634Glu) rs373147078
NM_000051.3(ATM):c.7912T>G (p.Trp2638Gly) rs563137460
NM_000051.3(ATM):c.7930G>A (p.Gly2644Ser) rs587781897
NM_000051.3(ATM):c.7933A>G (p.Ile2645Val) rs937831636
NM_000051.3(ATM):c.7976T>C (p.Leu2659Ser) rs1565538536
NM_000051.3(ATM):c.7980A>T (p.Glu2660Asp) rs1555126247
NM_000051.3(ATM):c.7999A>G (p.Met2667Val) rs34099398
NM_000051.3(ATM):c.8015A>C (p.Asp2672Ala) rs763161651
NM_000051.3(ATM):c.8026G>A (p.Glu2676Lys) rs786202859
NM_000051.3(ATM):c.8032G>A (p.Gly2678Arg) rs766730487
NM_000051.3(ATM):c.8041G>C (p.Val2681Leu) rs1064795034
NM_000051.3(ATM):c.8051A>G (p.Gln2684Arg) rs1555127107
NM_000051.3(ATM):c.8056T>C (p.Phe2686Leu) rs1555127125
NM_000051.3(ATM):c.8062G>A (p.Ala2688Thr) rs1565540761
NM_000051.3(ATM):c.8066A>G (p.Glu2689Gly) rs759779781
NM_000051.3(ATM):c.8071C>T (p.Arg2691Cys) rs531980488
NM_000051.3(ATM):c.8113G>A (p.Val2705Ile) rs587779870
NM_000051.3(ATM):c.8120C>G (p.Ser2707Cys) rs748016261
NM_000051.3(ATM):c.8129A>G (p.Lys2710Arg) rs587782001
NM_000051.3(ATM):c.8138G>A (p.Arg2713Lys) rs876659351
NM_000051.3(ATM):c.8140C>G (p.Gln2714Glu) rs1060501695
NM_000051.3(ATM):c.8152-8T>G rs752705487
NM_000051.3(ATM):c.8155C>T (p.Arg2719Cys) rs138526014
NM_000051.3(ATM):c.8156G>A (p.Arg2719His) rs55982963
NM_000051.3(ATM):c.8156G>T (p.Arg2719Leu) rs55982963
NM_000051.3(ATM):c.8169A>T (p.Arg2723Ser) rs780495319
NM_000051.3(ATM):c.8174A>G (p.Asp2725Gly) rs1555128314
NM_000051.3(ATM):c.8187A>C (p.Gln2729His) rs587781946
NM_000051.3(ATM):c.8187A>T (p.Gln2729His) rs587781946
NM_000051.3(ATM):c.8228C>T (p.Thr2743Met) rs730881321
NM_000051.3(ATM):c.8246A>T (p.Lys2749Ile) rs779145081
NM_000051.3(ATM):c.8254A>G (p.Ile2752Val) rs1215163673
NM_000051.3(ATM):c.8269-10_8269-9del rs587780641
NM_000051.3(ATM):c.8269-18_8269-15del rs1064794684
NM_000051.3(ATM):c.8275C>T (p.Pro2759Ser) rs764906663
NM_000051.3(ATM):c.8294G>A (p.Gly2765Asp) rs1565557835
NM_000051.3(ATM):c.8296G>A (p.Val2766Ile) rs730881322
NM_000051.3(ATM):c.8315G>A (p.Gly2772Glu) rs775293524
NM_000051.3(ATM):c.8327T>C (p.Ile2776Thr) rs746475628
NM_000051.3(ATM):c.8353G>A (p.Asp2785Asn) rs587782417
NM_000051.3(ATM):c.8363A>C (p.His2788Pro) rs1555135716
NM_000051.3(ATM):c.8363A>G (p.His2788Arg) rs1555135716
NM_000051.3(ATM):c.8377C>T (p.Pro2793Ser) rs1174335574
NM_000051.3(ATM):c.8383G>T (p.Asp2795Tyr) rs1565558417
NM_000051.3(ATM):c.8389A>G (p.Ser2797Gly)
NM_000051.3(ATM):c.8393C>A (p.Ala2798Asp) rs772992098
NM_000051.3(ATM):c.8393C>T (p.Ala2798Val) rs772992098
NM_000051.3(ATM):c.8405A>G (p.Gln2802Arg) rs730881324
NM_000051.3(ATM):c.8417T>C (p.Met2806Thr) rs1234463032
NM_000051.3(ATM):c.8418+6T>C rs1555135928
NM_000051.3(ATM):c.8419-7_8419-4del rs730881306
NM_000051.3(ATM):c.8419G>A (p.Glu2807Lys) rs1555137929
NM_000051.3(ATM):c.8428A>C (p.Lys2810Gln) rs730881325
NM_000051.3(ATM):c.8435C>G (p.Ser2812Cys) rs1565563280
NM_000051.3(ATM):c.8438T>C (p.Phe2813Ser) rs1555138027
NM_000051.3(ATM):c.8474A>G (p.Gln2825Arg) rs1555138094
NM_000051.3(ATM):c.8480T>G (p.Phe2827Cys) rs121434216
NM_000051.3(ATM):c.8483A>G (p.Gln2828Arg) rs1565563564
NM_000051.3(ATM):c.8495G>A (p.Arg2832His) rs529296539
NM_000051.3(ATM):c.8520G>C (p.Leu2840Phe) rs752652869
NM_000051.3(ATM):c.8521G>T (p.Asp2841Tyr) rs786203013
NM_000051.3(ATM):c.8524C>T (p.Pro2842Ser) rs876659505
NM_000051.3(ATM):c.8530A>C (p.Ile2844Leu) rs756230327
NM_000051.3(ATM):c.8549T>C (p.Leu2850Ser) rs876658716
NM_000051.3(ATM):c.8558C>T (p.Thr2853Met) rs141534716
NM_000051.3(ATM):c.8560C>T (p.Arg2854Cys) rs201958469
NM_000051.3(ATM):c.8561G>A (p.Arg2854His) rs1060501605
NM_000051.3(ATM):c.8572A>G (p.Thr2858Ala) rs749193688
NM_000051.3(ATM):c.8578_8580delTCT (p.SER1512DEL) rs786203976
NM_000051.3(ATM):c.8594T>C (p.Ile2865Thr) rs587779873
NM_000051.3(ATM):c.8596C>G (p.Leu2866Val) rs368666328
NM_000051.3(ATM):c.8617G>A (p.Val2873Ile) rs730881327
NM_000051.3(ATM):c.8621A>G (p.Gln2874Arg) rs1565567144
NM_000051.3(ATM):c.8631G>C (p.Leu2877Phe) rs1064794840
NM_000051.3(ATM):c.8642A>G (p.Gln2881Arg) rs1555139623
NM_000051.3(ATM):c.8665G>A (p.Asp2889Asn) rs587781814
NM_000051.3(ATM):c.8666A>G (p.Asp2889Gly) rs876658236
NM_000051.3(ATM):c.8711A>G (p.Glu2904Gly) rs786202826
NM_000051.3(ATM):c.8734A>G (p.Arg2912Gly) rs376676328
NM_000051.3(ATM):c.8742T>G (p.Ile2914Met) rs587782264
NM_000051.3(ATM):c.8752A>T (p.Met2918Leu) rs1555142873
NM_000051.3(ATM):c.8762C>A (p.Thr2921Lys) rs730881329
NM_000051.3(ATM):c.8774G>T (p.Gly2925Val) rs769959260
NM_000051.3(ATM):c.8787-12G>C rs1565582204
NM_000051.3(ATM):c.8787-13T>G rs1565582198
NM_000051.3(ATM):c.8789G>A (p.Cys2930Tyr) rs1060501572
NM_000051.3(ATM):c.8797A>G (p.Lys2933Glu) rs587779875
NM_000051.3(ATM):c.8800A>G (p.Thr2934Ala) rs746351323
NM_000051.3(ATM):c.8810T>A (p.Val2937Glu) rs587782149
NM_000051.3(ATM):c.8810T>C (p.Val2937Ala) rs587782149
NM_000051.3(ATM):c.8813T>A (p.Met2938Lys) rs1565582407
NM_000051.3(ATM):c.8818A>G (p.Asn2940Asp) rs1565582460
NM_000051.3(ATM):c.8840C>A (p.Thr2947Asn) rs1555143579
NM_000051.3(ATM):c.8851-3T>G rs748874219
NM_000051.3(ATM):c.8860T>C (p.Tyr2954His) rs371619067
NM_000051.3(ATM):c.8861A>G (p.Tyr2954Cys) rs767507047
NM_000051.3(ATM):c.8878T>C (p.Trp2960Arg) rs1064794739
NM_000051.3(ATM):c.8895G>C (p.Leu2965Phe) rs200899512
NM_000051.3(ATM):c.8895G>T (p.Leu2965Phe) rs200899512
NM_000051.3(ATM):c.8915A>G (p.Gln2972Arg) rs763773991
NM_000051.3(ATM):c.8938C>A (p.Leu2980Ile) rs786203721
NM_000051.3(ATM):c.8942A>G (p.His2981Arg) rs750441954
NM_000051.3(ATM):c.8944C>T (p.Pro2982Ser) rs1485620194
NM_000051.3(ATM):c.8947A>C (p.Thr2983Pro) rs1555151456
NM_000051.3(ATM):c.8965C>G (p.Gln2989Glu) rs147695170
NM_000051.3(ATM):c.8968G>A (p.Glu2990Lys) rs1800558
NM_000051.3(ATM):c.8972G>T (p.Cys2991Phe) rs1555151500
NM_000051.3(ATM):c.8978G>A (p.Arg2993Gln) rs587778081
NM_000051.3(ATM):c.8983C>A (p.Leu2995Ile) rs142322668
NM_000051.3(ATM):c.8992A>G (p.Ile2998Val) rs1565608692
NM_000051.3(ATM):c.8993T>C (p.Ile2998Thr) rs778670498
NM_000051.3(ATM):c.9002G>A (p.Ser3001Asn) rs587781413
NM_000051.3(ATM):c.9010A>G (p.Lys3004Glu) rs1555151737
NM_000051.3(ATM):c.9014T>C (p.Val3005Ala) rs876659968
NM_000051.3(ATM):c.9031A>G (p.Met3011Val) rs372795527
NM_000051.3(ATM):c.9041A>G (p.Gln3014Arg) rs1064793579
NM_000051.3(ATM):c.9050T>C (p.Leu3017Pro) rs786204218
NM_000051.3(ATM):c.9070A>C (p.Thr3024Pro) rs587781630
NM_000051.3(ATM):c.9071C>T (p.Thr3024Ile) rs786203183
NM_000051.3(ATM):c.9073G>A (p.Val3025Met) rs1555151925
NM_000051.3(ATM):c.9079A>G (p.Ser3027Gly) rs763152094
NM_000051.3(ATM):c.9080G>C (p.Ser3027Thr) rs1565609342
NM_000051.3(ATM):c.9098A>G (p.Asn3033Ser) rs1555151991
NM_000051.3(ATM):c.9106A>G (p.Ile3036Val) rs1565609567
NM_000051.3(ATM):c.9113A>T (p.Gln3038Leu) rs1131691391
NM_000051.3(ATM):c.9119T>C (p.Ile3040Thr) rs369870357
NM_000051.3(ATM):c.9128A>G (p.Lys3043Arg) rs867893961
NM_000051.3(ATM):c.9131A>G (p.Asn3044Ser) rs1555152029
NM_000051.3(ATM):c.9142C>G (p.Leu3048Val) rs876660534
NM_001351834.2(ATM):c.5763-1050A>G rs774925473

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.