ClinVar Miner

List of variants in gene NF1 reported as likely benign by PreventionGenetics, part of Exact Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 205
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.4577+12C>T rs17878332 0.00352
NM_001042492.3(NF1):c.655-29T>C rs182325576 0.00240
NM_001042492.3(NF1):c.4269A>G (p.Glu1423=) rs17886566 0.00238
NM_001042492.3(NF1):c.8161-45A>C rs17879551 0.00176
NM_001042492.3(NF1):c.1846-12A>T rs188510882 0.00124
NM_001042492.3(NF1):c.4577+11C>G rs190614908 0.00124
NM_001042492.3(NF1):c.8114-70A>T rs192112633 0.00088
NM_001042492.3(NF1):c.3270A>C (p.Gly1090=) rs150015024 0.00079
NM_001042492.3(NF1):c.6921+40A>G rs188244160 0.00065
NM_001042492.3(NF1):c.3198-3dup rs1555614816 0.00063
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753 0.00058
NM_001042492.3(NF1):c.7461A>G (p.Thr2487=) rs149924365 0.00052
NM_001042492.3(NF1):c.7615+24del rs754290122 0.00050
NM_001042492.3(NF1):c.731-6A>C rs369366499 0.00037
NM_001042492.3(NF1):c.4851A>G (p.Gln1617=) rs150309802 0.00032
NM_001042492.3(NF1):c.1137C>T (p.Cys379=) rs139648455 0.00031
NM_001042492.3(NF1):c.8041A>G (p.Ile2681Val) rs146315101 0.00031
NM_001042492.3(NF1):c.1976G>A (p.Arg659Gln) rs151138158 0.00029
NM_001042492.3(NF1):c.5883G>A (p.Lys1961=) rs144808600 0.00026
NM_001042492.3(NF1):c.5269-9A>G rs544515671 0.00021
NM_001042492.3(NF1):c.8499T>C (p.Asn2833=) rs142636150 0.00020
NM_001042492.3(NF1):c.1032A>G (p.Leu344=) rs199832006 0.00019
NM_001042492.3(NF1):c.4749A>G (p.Glu1583=) rs144091165 0.00019
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val) rs201712827 0.00017
NM_001042492.3(NF1):c.107C>G (p.Thr36Ser) rs199966218 0.00015
NM_001042492.3(NF1):c.6929C>T (p.Pro2310Leu) rs148736217 0.00015
NM_001042492.3(NF1):c.2133C>T (p.Arg711=) rs148085908 0.00014
NM_001042492.3(NF1):c.3871-15C>T rs200104394 0.00014
NM_001042492.3(NF1):c.2002-9G>T rs376197466 0.00013
NM_001042492.3(NF1):c.2838C>T (p.Asp946=) rs147188807 0.00013
NM_001042492.3(NF1):c.7026G>A (p.Leu2342=) rs371581213 0.00013
NM_001042492.3(NF1):c.5049C>T (p.Asn1683=) rs140994965 0.00012
NM_001042492.3(NF1):c.5322G>A (p.Gly1774=) rs201584313 0.00012
NM_001042492.3(NF1):c.2178G>C (p.Val726=) rs369590240 0.00010
NM_001042492.3(NF1):c.2541T>C (p.Leu847=) rs147433258 0.00010
NM_001042492.3(NF1):c.4724+11A>G rs368649260 0.00009
NM_001042492.3(NF1):c.4836-3T>C rs372460369 0.00009
NM_001042492.3(NF1):c.5757G>A (p.Glu1919=) rs141077224 0.00009
NM_001042492.3(NF1):c.6171A>T (p.Ile2057=) rs140733963 0.00008
NM_001042492.3(NF1):c.8105A>T (p.Tyr2702Phe) rs201824349 0.00008
NM_001042492.3(NF1):c.1392+5G>T rs199999754 0.00007
NM_001042492.3(NF1):c.1392+6A>T rs200798969 0.00007
NM_001042492.3(NF1):c.3636C>A (p.Val1212=) rs145126193 0.00007
NM_001042492.3(NF1):c.4803T>C (p.Ala1601=) rs148662566 0.00007
NM_001042492.3(NF1):c.3686A>G (p.Asn1229Ser) rs140523180 0.00006
NM_001042492.3(NF1):c.6033A>G (p.Leu2011=) rs147995863 0.00006
NM_001042492.3(NF1):c.6375G>A (p.Leu2125=) rs773467465 0.00006
NM_001042492.3(NF1):c.4263G>A (p.Pro1421=) rs201648604 0.00005
NM_001042492.3(NF1):c.7245A>G (p.Thr2415=) rs539553128 0.00005
NM_001042492.3(NF1):c.3114-4A>G rs201550230 0.00004
NM_001042492.3(NF1):c.4111-4G>A rs764877783 0.00004
NM_001042492.3(NF1):c.4767G>A (p.Thr1589=) rs376659579 0.00004
NM_001042492.3(NF1):c.5793T>C (p.Ile1931=) rs779114598 0.00004
NM_001042492.3(NF1):c.5812+8A>G rs372075322 0.00004
NM_001042492.3(NF1):c.5925T>C (p.Leu1975=) rs375776474 0.00004
NM_001042492.3(NF1):c.6628T>C (p.Leu2210=) rs138265293 0.00004
NM_001042492.3(NF1):c.889-17A>G rs371265998 0.00004
NM_001042492.3(NF1):c.898C>T (p.Leu300=) rs786201926 0.00004
NM_001042492.3(NF1):c.1296G>A (p.Val432=) rs371599283 0.00003
NM_001042492.3(NF1):c.1884C>T (p.Tyr628=) rs555635097 0.00003
NM_001042492.3(NF1):c.4362C>T (p.Leu1454=) rs864622298 0.00003
NM_001042492.3(NF1):c.4835+5G>C rs786201306 0.00003
NM_001042492.3(NF1):c.6642+4T>C rs587781687 0.00003
NM_001042492.3(NF1):c.7189+7A>G rs767151173 0.00003
NM_001042492.3(NF1):c.7458-7C>T rs758106590 0.00003
NM_001042492.3(NF1):c.861C>T (p.Asp287=) rs749949219 0.00003
NM_001042492.3(NF1):c.1901T>C (p.Ile634Thr) rs527563505 0.00002
NM_001042492.3(NF1):c.2224G>T (p.Ala742Ser) rs587781896 0.00002
NM_001042492.3(NF1):c.2547A>C (p.Gly849=) rs748303121 0.00002
NM_001042492.3(NF1):c.264T>C (p.Asp88=) rs1359209770 0.00002
NM_001042492.3(NF1):c.3063A>C (p.Val1021=) rs768611775 0.00002
NM_001042492.3(NF1):c.4665A>C (p.Ala1555=) rs786201457 0.00002
NM_001042492.3(NF1):c.4668T>C (p.Asp1556=) rs763874870 0.00002
NM_001042492.3(NF1):c.628T>C (p.Leu210=) rs757812365 0.00002
NM_001042492.3(NF1):c.6819+11C>T rs201213225 0.00002
NM_001042492.3(NF1):c.7457+8G>T rs376147282 0.00002
NM_001042492.3(NF1):c.8139G>A (p.Arg2713=) rs139527415 0.00002
NM_001042492.3(NF1):c.8160+9A>C rs997202389 0.00002
NM_001042492.3(NF1):c.1062+7T>C rs979521240 0.00001
NM_001042492.3(NF1):c.1176A>G (p.Gln392=) rs566220983 0.00001
NM_001042492.3(NF1):c.1185+7G>A rs1322791959 0.00001
NM_001042492.3(NF1):c.1541A>C (p.Gln514Pro) rs775369084 0.00001
NM_001042492.3(NF1):c.1974C>A (p.Leu658=) rs751318331 0.00001
NM_001042492.3(NF1):c.2355A>G (p.Glu785=) rs876658622 0.00001
NM_001042492.3(NF1):c.235T>C (p.Leu79=) rs764855221 0.00001
NM_001042492.3(NF1):c.2410-18C>T rs533210843 0.00001
NM_001042492.3(NF1):c.2454C>G (p.Ser818=) rs763634947 0.00001
NM_001042492.3(NF1):c.2550G>T (p.Val850=) rs772148227 0.00001
NM_001042492.3(NF1):c.2622G>A (p.Lys874=) rs77917884 0.00001
NM_001042492.3(NF1):c.2658C>T (p.Asn886=) rs781549970 0.00001
NM_001042492.3(NF1):c.2991-12A>G rs760838737 0.00001
NM_001042492.3(NF1):c.3111T>C (p.Phe1037=) rs200240170 0.00001
NM_001042492.3(NF1):c.3285G>A (p.Leu1095=) rs774759676 0.00001
NM_001042492.3(NF1):c.354C>T (p.Cys118=) rs768777585 0.00001
NM_001042492.3(NF1):c.3709-8G>C rs767650263 0.00001
NM_001042492.3(NF1):c.3732T>A (p.Val1244=) rs756653022 0.00001
NM_001042492.3(NF1):c.3974+9T>A rs368586596 0.00001
NM_001042492.3(NF1):c.3975-4G>A rs760207624 0.00001
NM_001042492.3(NF1):c.417T>C (p.Ser139=) rs762434870 0.00001
NM_001042492.3(NF1):c.4230C>T (p.Phe1410=) rs750213850 0.00001
NM_001042492.3(NF1):c.4503C>T (p.Asp1501=) rs577394398 0.00001
NM_001042492.3(NF1):c.4944C>T (p.Thr1648=) rs759291615 0.00001
NM_001042492.3(NF1):c.5145G>A (p.Leu1715=) rs762436173 0.00001
NM_001042492.3(NF1):c.5508C>T (p.Pro1836=) rs786202557 0.00001
NM_001042492.3(NF1):c.5571C>T (p.Ile1857=) rs771837192 0.00001
NM_001042492.3(NF1):c.5715C>T (p.Thr1905=) rs1060503892 0.00001
NM_001042492.3(NF1):c.5958A>G (p.Lys1986=) rs1216926117 0.00001
NM_001042492.3(NF1):c.6345G>A (p.Pro2115=) rs779475182 0.00001
NM_001042492.3(NF1):c.6558A>C (p.Ser2186=) rs753509749 0.00001
NM_001042492.3(NF1):c.6666G>A (p.Thr2222=) rs780247942 0.00001
NM_001042492.3(NF1):c.6922-8T>C rs191255643 0.00001
NM_001042492.3(NF1):c.7092G>A (p.Arg2364=) rs762081710 0.00001
NM_001042492.3(NF1):c.7190-4G>A rs1414521347 0.00001
NM_001042492.3(NF1):c.7332A>G (p.Thr2444=) rs759005886 0.00001
NM_001042492.3(NF1):c.7839G>A (p.Pro2613=) rs752218441 0.00001
NM_001042492.3(NF1):c.7981T>C (p.Leu2661=) rs777848844 0.00001
NM_001042492.3(NF1):c.8451C>T (p.Ser2817=) rs547090599 0.00001
NM_001042492.3(NF1):c.8478C>T (p.Ser2826=) rs770148738 0.00001
NM_001042492.3(NF1):c.1062+110T>C
NM_001042492.3(NF1):c.1260+1608A>G
NM_001042492.3(NF1):c.129A>T (p.Leu43=)
NM_001042492.3(NF1):c.1392+750A>G
NM_001042492.3(NF1):c.1393-31G>A rs564424477
NM_001042492.3(NF1):c.1393-579C>T
NM_001042492.3(NF1):c.1393-590A>G
NM_001042492.3(NF1):c.1393-596G>T
NM_001042492.3(NF1):c.1527+14T>A rs1178535900
NM_001042492.3(NF1):c.1527+14del rs772159080
NM_001042492.3(NF1):c.1710T>C (p.Phe570=) rs1462741584
NM_001042492.3(NF1):c.1721+19_1721+21del rs762735676
NM_001042492.3(NF1):c.1721+66T>A
NM_001042492.3(NF1):c.1721+69A>G
NM_001042492.3(NF1):c.177T>C (p.Thr59=)
NM_001042492.3(NF1):c.183T>C (p.Ile61=)
NM_001042492.3(NF1):c.2325+4T>C rs1555613934
NM_001042492.3(NF1):c.2410-27T>C
NM_001042492.3(NF1):c.2514C>T (p.Ile838=) rs863224352
NM_001042492.3(NF1):c.2544G>C (p.Gly848=) rs17883704
NM_001042492.3(NF1):c.2676C>T (p.Ser892=)
NM_001042492.3(NF1):c.2803A>G (p.Asn935Asp) rs786201823
NM_001042492.3(NF1):c.2851-21_2851-17del rs758020046
NM_001042492.3(NF1):c.288+1131T>A
NM_001042492.3(NF1):c.2921A>G (p.Asn974Ser) rs557875547
NM_001042492.3(NF1):c.3084C>T (p.Asp1028=) rs1235103530
NM_001042492.3(NF1):c.3197+9dup rs755212937
NM_001042492.3(NF1):c.3198-13_3198-4del
NM_001042492.3(NF1):c.3198-14_3198-4del
NM_001042492.3(NF1):c.3198-15_3198-4del
NM_001042492.3(NF1):c.3198-16_3198-4del
NM_001042492.3(NF1):c.3198-316A>G
NM_001042492.3(NF1):c.3200A>T (p.Asp1067Val) rs746785904
NM_001042492.3(NF1):c.3756A>G (p.Leu1252=) rs1298630862
NM_001042492.3(NF1):c.4047C>T (p.Ala1349=) rs752621693
NM_001042492.3(NF1):c.4110+937C>T
NM_001042492.3(NF1):c.4110+955C>G
NM_001042492.3(NF1):c.4119C>T (p.Cys1373=) rs886038394
NM_001042492.3(NF1):c.4174-8_4174-6del rs751729752
NM_001042492.3(NF1):c.4257C>T (p.Val1419=) rs886038395
NM_001042492.3(NF1):c.4332+8A>G rs773883353
NM_001042492.3(NF1):c.4431-21_4431-19dup rs760117122
NM_001042492.3(NF1):c.4500T>C (p.Ser1500=) rs775018971
NM_001042492.3(NF1):c.4533C>T (p.Leu1511=)
NM_001042492.3(NF1):c.4932C>T (p.Asp1644=) rs1555533304
NM_001042492.3(NF1):c.4953C>T (p.Ser1651=) rs941643920
NM_001042492.3(NF1):c.5040T>C (p.Tyr1680=) rs1555533351
NM_001042492.3(NF1):c.5250C>T (p.Asp1750=) rs1210732116
NM_001042492.3(NF1):c.5269-35C>G
NM_001042492.3(NF1):c.5688A>G (p.Ser1896=) rs1597834745
NM_001042492.3(NF1):c.5812+259A>G
NM_001042492.3(NF1):c.5812+326G>A
NM_001042492.3(NF1):c.5812+333T>C
NM_001042492.3(NF1):c.5813-168del
NM_001042492.3(NF1):c.5813-24T>C
NM_001042492.3(NF1):c.5813-287C>T
NM_001042492.3(NF1):c.5813-40_5813-39dup rs886038397
NM_001042492.3(NF1):c.5932C>T (p.Leu1978=) rs2151550569
NM_001042492.3(NF1):c.6006+5_6006+25del rs1555534435
NM_001042492.3(NF1):c.61-3C>A
NM_001042492.3(NF1):c.61-7480T>C
NM_001042492.3(NF1):c.61-7497_61-7496dup
NM_001042492.3(NF1):c.6147+8C>T rs182709912
NM_001042492.3(NF1):c.6148-17del
NM_001042492.3(NF1):c.6148-18A>T
NM_001042492.3(NF1):c.6279C>T (p.Ser2093=) rs1055695069
NM_001042492.3(NF1):c.6642+11C>G rs375446476
NM_001042492.3(NF1):c.6642+53T>C
NM_001042492.3(NF1):c.6642+87G>T
NM_001042492.3(NF1):c.6704+4T>C rs1555534930
NM_001042492.3(NF1):c.7063-7T>A
NM_001042492.3(NF1):c.7063-9_7063-7del
NM_001042492.3(NF1):c.7190-33TTGT[4] rs149197458
NM_001042492.3(NF1):c.7190-5dup rs769290414
NM_001042492.3(NF1):c.7321+19_7321+22del rs528866152
NM_001042492.3(NF1):c.774A>G (p.Glu258=) rs1555608947
NM_001042492.3(NF1):c.7806T>C (p.Asn2602=) rs2070288476
NM_001042492.3(NF1):c.780C>T (p.Thr260=) rs1358425599
NM_001042492.3(NF1):c.7870-13dup rs369360556
NM_001042492.3(NF1):c.7971-314G>C
NM_001042492.3(NF1):c.7971-8dup rs564545012
NM_001042492.3(NF1):c.8113+28G>C
NM_001042492.3(NF1):c.8114-60T>C
NM_001042492.3(NF1):c.819C>T (p.Leu273=) rs765595990
NM_001042492.3(NF1):c.888+660A>G
NM_001042492.3(NF1):c.889-21C>T
NM_001042492.3(NF1):c.942G>A (p.Arg314=) rs786203445

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