ClinVar Miner

List of variants in gene combination ATM, C11orf65 reported by Mendelics

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Gene type:
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Total variants: 153
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.6573-36C>T rs759869598 0.02433
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val) rs145847315 0.00517
NM_000051.4(ATM):c.6573-30C>T rs775413448 0.00345
NM_000051.4(ATM):c.8269-14A>T rs114320959 0.00195
NM_000051.4(ATM):c.7788+8G>T rs112775908 0.00165
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile) rs144761622 0.00126
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00124
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala) rs1800061 0.00096
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val) rs148432863 0.00075
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp) rs138828590 0.00056
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile) rs147604227 0.00056
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=) rs56025670 0.00051
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg) rs55801750 0.00038
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser) rs199915459 0.00031
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr) rs150757822 0.00025
NM_000051.4(ATM):c.6537T>G (p.Ile2179Met) rs146243469 0.00022
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700 0.00019
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly) rs376676328 0.00019
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser) rs370559102 0.00017
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) rs201199629 0.00016
NM_000051.4(ATM):c.8156G>A (p.Arg2719His) rs55982963 0.00015
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys) rs201958469 0.00013
NM_000051.4(ATM):c.8671+9T>G rs200190537 0.00013
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu) rs201963507 0.00011
NM_000051.4(ATM):c.6343G>A (p.Val2115Ile) rs587780634 0.00011
NM_000051.4(ATM):c.8071C>T (p.Arg2691Cys) rs531980488 0.00011
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr) rs567060474 0.00009
NM_000051.4(ATM):c.6503C>T (p.Ser2168Leu) rs200431631 0.00008
NM_000051.4(ATM):c.6315G>C (p.Arg2105Ser) rs587780632 0.00006
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter) rs377349459 0.00006
NM_000051.4(ATM):c.8495G>A (p.Arg2832His) rs529296539 0.00006
NM_000051.4(ATM):c.8921C>T (p.Pro2974Leu) rs139379666 0.00006
NM_000051.4(ATM):c.7816A>G (p.Ile2606Val) rs376824528 0.00004
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000051.4(ATM):c.5917A>G (p.Arg1973Gly) rs786202089 0.00003
NM_000051.4(ATM):c.6554T>C (p.Ile2185Thr) rs779611511 0.00003
NM_000051.4(ATM):c.8246A>T (p.Lys2749Ile) rs779145081 0.00003
NM_000051.4(ATM):c.8264_8268del (p.Tyr2755fs) rs730881294 0.00003
NM_000051.4(ATM):c.7875T>G (p.Asp2625Glu) rs1196903858 0.00002
NM_000051.4(ATM):c.7876G>C (p.Ala2626Pro) rs267606669 0.00002
NM_000051.4(ATM):c.8151+8T>C rs768069197 0.00002
NM_000051.4(ATM):c.8152-50T>C rs762648668 0.00002
NM_000051.4(ATM):c.8187A>C (p.Gln2729His) rs587781946 0.00002
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys) rs587782292 0.00002
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys) rs56399311 0.00001
NM_000051.4(ATM):c.6134C>A (p.Ala2045Asp) rs879254147 0.00001
NM_000051.4(ATM):c.6670A>G (p.Met2224Val) rs545873723 0.00001
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys) rs564652222 0.00001
NM_000051.4(ATM):c.6681C>T (p.Arg2227=) rs775850434 0.00001
NM_000051.4(ATM):c.6848C>T (p.Ser2283Leu) rs876660730 0.00001
NM_000051.4(ATM):c.6929G>A (p.Ser2310Asn) rs1381019767 0.00001
NM_000051.4(ATM):c.6974C>T (p.Ala2325Val) rs200940211 0.00001
NM_000051.4(ATM):c.7316T>C (p.Val2439Ala) rs776266049 0.00001
NM_000051.4(ATM):c.7463G>A (p.Cys2488Tyr) rs774281788 0.00001
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000051.4(ATM):c.7871G>C (p.Cys2624Ser) rs759392666 0.00001
NM_000051.4(ATM):c.7880A>G (p.Tyr2627Cys) rs767670019 0.00001
NM_000051.4(ATM):c.7993C>G (p.Pro2665Ala) rs1555126304 0.00001
NM_000051.4(ATM):c.8155C>T (p.Arg2719Cys) rs138526014 0.00001
NM_000051.4(ATM):c.8228C>T (p.Thr2743Met) rs730881321 0.00001
NM_000051.4(ATM):c.8275C>T (p.Pro2759Ser) rs764906663 0.00001
NM_000051.4(ATM):c.8438T>C (p.Phe2813Ser) rs1555138027 0.00001
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) rs587779872 0.00001
NM_000051.4(ATM):c.8497T>C (p.Tyr2833His) rs774171813 0.00001
NM_000051.4(ATM):c.8576C>T (p.Ser2859Phe) rs786203542 0.00001
NM_000051.4(ATM):c.9023G>A (p.Arg3008His) rs587781894 0.00001
NM_000051.4(ATM):c.9166G>T (p.Val3056Leu) rs371767164 0.00001
NM_000051.4(ATM):c.5899A>G (p.Met1967Val) rs1060501541
NM_000051.4(ATM):c.5966T>G (p.Leu1989Trp) rs1565493603
NM_000051.4(ATM):c.5977_5978insAAAAAAAAA (p.Lys1992_Ser1993insLysLysLys) rs1591758642
NM_000051.4(ATM):c.6007-27C>T rs1164649351
NM_000051.4(ATM):c.6007-30C>T rs1425802573
NM_000051.4(ATM):c.6007-33C>T rs1191788183
NM_000051.4(ATM):c.6007-34C>T rs1591775892
NM_000051.4(ATM):c.6092C>T (p.Thr2031Ile) rs1555113613
NM_000051.4(ATM):c.6185C>A (p.Ala2062Glu) rs1565499989
NM_000051.4(ATM):c.6217C>T (p.Leu2073Phe) rs767406075
NM_000051.4(ATM):c.6260A>G (p.Glu2087Gly) rs1565503023
NM_000051.4(ATM):c.6280del (p.Glu2094fs) rs1565503198
NM_000051.4(ATM):c.6347+31del rs58978479
NM_000051.4(ATM):c.6348-1G>A rs1057517302
NM_000051.4(ATM):c.6348-9A>T rs1591099349
NM_000051.4(ATM):c.6355G>T (p.Val2119Leu) rs1266938537
NM_000051.4(ATM):c.6404dup (p.Arg2136fs) rs587782554
NM_000051.4(ATM):c.6493T>A (p.Ser2165Thr) rs1555117132
NM_000051.4(ATM):c.6573-23G>T rs1591127987
NM_000051.4(ATM):c.6573-26C>A rs1591127920
NM_000051.4(ATM):c.6573-31G>T rs1274213878
NM_000051.4(ATM):c.6573-31_6573-30del rs1216821271
NM_000051.4(ATM):c.6573-34C>T rs767824695
NM_000051.4(ATM):c.6573-37_6573-36insTTTTTT rs1591127671
NM_000051.4(ATM):c.6573-41_6573-40del rs758339884
NM_000051.4(ATM):c.6573-41del rs1271045298
NM_000051.4(ATM):c.6573-42_6573-41del rs1347499229
NM_000051.4(ATM):c.6575C>G (p.Ser2192Ter) rs2136306738
NM_000051.4(ATM):c.6677T>C (p.Leu2226Pro) rs1565518489
NM_000051.4(ATM):c.6689T>C (p.Ile2230Thr) rs587781562
NM_000051.4(ATM):c.6825A>G (p.Ile2275Met) rs1591133274
NM_000051.4(ATM):c.6860G>A (p.Gly2287Glu) rs1800061
NM_000051.4(ATM):c.6897C>G (p.Phe2299Leu) rs777164914
NM_000051.4(ATM):c.6975G>A (p.Ala2325=) rs556778314
NM_000051.4(ATM):c.6987C>G (p.Ser2329Arg) rs1591142078
NM_000051.4(ATM):c.6998C>T (p.Thr2333Ile) rs150503164
NM_000051.4(ATM):c.7037C>T (p.Ala2346Val) rs2085819145
NM_000051.4(ATM):c.7061C>T (p.Ala2354Val) rs1555121079
NM_000051.4(ATM):c.7166C>A (p.Ser2389Ter) rs1018140779
NM_000051.4(ATM):c.7202T>C (p.Ile2401Thr) rs1555122117
NM_000051.4(ATM):c.7223C>G (p.Ser2408Trp) rs730881315
NM_000051.4(ATM):c.7234A>G (p.Asn2412Asp) rs2085991994
NM_000051.4(ATM):c.7248C>T (p.Leu2416=) rs750513866
NM_000051.4(ATM):c.7262A>C (p.Lys2421Thr) rs1360453074
NM_000051.4(ATM):c.7269A>T (p.Glu2423Asp) rs864622471
NM_000051.4(ATM):c.7273G>A (p.Gly2425Ser) rs2136421981
NM_000051.4(ATM):c.7375C>G (p.Arg2459Gly) rs730881383
NM_000051.4(ATM):c.7408T>G (p.Tyr2470Asp) rs876659365
NM_000051.4(ATM):c.7542_7543del (p.Tyr2514_Lys2515delinsTer) rs1555123981
NM_000051.4(ATM):c.7595T>C (p.Met2532Thr) rs765654550
NM_000051.4(ATM):c.7629+12_7629+15del rs1555124156
NM_000051.4(ATM):c.7630-29G>T rs1591170490
NM_000051.4(ATM):c.7630-37G>T rs1591170392
NM_000051.4(ATM):c.7696G>A (p.Ala2566Thr) rs1060501604
NM_000051.4(ATM):c.7789-15G>T rs781449587
NM_000051.4(ATM):c.7789-3T>G rs864622185
NM_000051.4(ATM):c.7789-8A>T rs1591177900
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs) rs1450394308
NM_000051.4(ATM):c.7907C>T (p.Thr2636Ile) rs2086428372
NM_000051.4(ATM):c.7917G>C (p.Lys2639Asn) rs1555125501
NM_000051.4(ATM):c.7942C>A (p.Pro2648Thr) rs878853547
NM_000051.4(ATM):c.7966C>G (p.Leu2656Val) rs1591184384
NM_000051.4(ATM):c.8010+1del rs876659350
NM_000051.4(ATM):c.8066A>G (p.Glu2689Gly) rs759779781
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.4(ATM):c.8152-1G>T rs1398616877
NM_000051.4(ATM):c.8268+1G>T rs876658957
NM_000051.4(ATM):c.8292_8293del (p.Ser2764fs) rs879254036
NM_000051.4(ATM):c.8313A>C (p.Thr2771=) rs1555135563
NM_000051.4(ATM):c.8473_8479del (p.Gln2825fs) rs2137028850
NM_000051.4(ATM):c.8484del (p.Gln2828fs) rs1565563579
NM_000051.4(ATM):c.8585-2A>C rs1060501700
NM_000051.4(ATM):c.8790C>G (p.Cys2930Trp) rs1565582275
NM_000051.4(ATM):c.8843T>C (p.Ile2948Thr) rs876659516
NM_000051.4(ATM):c.8846T>C (p.Val2949Ala) rs2089701066
NM_000051.4(ATM):c.8867C>T (p.Pro2956Leu) rs1555151244
NM_000051.4(ATM):c.8893T>C (p.Leu2965=) rs1060504287
NM_000051.4(ATM):c.8923G>T (p.Glu2975Ter) rs2091208125
NM_000051.4(ATM):c.8942A>G (p.His2981Arg) rs750441954
NM_000051.4(ATM):c.8988-1G>A rs730881386
NM_000051.4(ATM):c.9079dup (p.Ser3027fs) rs587780645
NM_000051.4(ATM):c.9112C>A (p.Gln3038Lys) rs1591387978
NM_000051.4(ATM):c.9146del (p.Phe3049fs) rs1555152058
NM_000051.4(ATM):c.9164G>C (p.Trp3055Ser) rs2137930567

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