ClinVar Miner

List of variants in gene SCN2A reported as benign for not provided

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Gene type:
ClinVar version:
Total variants: 117
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.2016+337T>A rs777139 0.98971
NM_001040142.2(SCN2A):c.3972+65T>C rs6432821 0.98885
NM_001040142.2(SCN2A):c.-51-172T>C rs353126 0.96582
NM_001040142.2(SCN2A):c.268-28A>G rs7593568 0.82099
NM_001040142.2(SCN2A):c.1671+49A>G rs1838846 0.82025
NM_001040142.2(SCN2A):c.1035-3T>C rs2121371 0.82016
NM_001040142.2(SCN2A):c.-51-98A>G rs2075704 0.81154
NM_001040142.2(SCN2A):c.1672-309C>A rs1816918 0.81060
NM_001040142.2(SCN2A):c.477-289G>A rs1965757 0.80568
NM_001040142.2(SCN2A):c.3399+234C>T rs10191771 0.73476
NM_001040142.2(SCN2A):c.4447-106T>C rs7578237 0.72685
NM_001040142.2(SCN2A):c.2150-306T>C rs7596027 0.71747
NM_001040142.2(SCN2A):c.1672-16C>T rs1867864 0.56164
NM_001040142.2(SCN2A):c.2017-148G>T rs12993173 0.56088
NM_001040142.2(SCN2A):c.2562+305T>A rs3769949 0.44271
NM_001040142.2(SCN2A):c.3849+298A>G rs1469649 0.42948
NM_001040142.2(SCN2A):c.3675+166G>A rs2304010 0.42659
NM_001040142.2(SCN2A):c.3676-278G>C rs59934051 0.42653
NM_001040142.2(SCN2A):c.3849+169A>G rs2304012 0.38380
NM_001040142.2(SCN2A):c.3850-339A>G rs1560626 0.38367
NM_001040142.2(SCN2A):c.4309-231del rs67443324 0.37564
NM_001040142.2(SCN2A):c.4551+327T>C rs7581427 0.29666
NM_001040142.2(SCN2A):c.698-161C>T rs2116658 0.29586
NM_001040142.2(SCN2A):c.3850-226C>T rs12692768 0.28892
NM_001040142.2(SCN2A):c.4254+158A>G rs1368238 0.28873
NM_001040142.2(SCN2A):c.3400-71C>T rs3769951 0.25592
NM_001040142.2(SCN2A):c.3400-344A>G rs3769950 0.24108
NM_001040142.2(SCN2A):c.970+61T>A rs7560348 0.23243
NM_001040142.2(SCN2A):c.3849+241T>G rs2304013 0.21153
NM_001040142.2(SCN2A):c.268-266T>C rs12468669 0.21116
NM_001040142.2(SCN2A):c.2389-280A>G rs62174667 0.20327
NM_001040142.2(SCN2A):c.2563-184A>G rs3943809 0.20326
NM_001040142.2(SCN2A):c.4551+318del rs77422519 0.20303
NM_001040142.2(SCN2A):c.4255-31A>G rs1864885 0.20300
NM_001040142.2(SCN2A):c.3972+73T>A rs2304014 0.16857
NM_001040142.2(SCN2A):c.1035-57A>G rs13025009 0.15226
NM_001040142.2(SCN2A):c.2149+83C>T rs17184707 0.14913
NM_001040142.2(SCN2A):c.3675+224A>C rs3816000 0.13773
NM_001040142.2(SCN2A):c.2150-205T>G rs2304017 0.13767
NM_001040142.2(SCN2A):c.3675+294G>C rs6738837 0.13750
NM_001040142.2(SCN2A):c.2149+196C>T rs7569870 0.11330
NM_001040142.2(SCN2A):c.2149+195C>G rs7569869 0.11317
NM_001040142.2(SCN2A):c.56G>A (p.Arg19Lys) rs17183814 0.06063
NM_001040142.2(SCN2A):c.4822+48A>G rs6724440 0.04311
NM_001040142.2(SCN2A):c.4822+311T>C rs6714217 0.04307
NM_001040142.2(SCN2A):c.4552-259A>G rs28611420 0.04306
NM_001040142.2(SCN2A):c.4309-210T>G rs10207897 0.04305
NM_001040142.2(SCN2A):c.2563-163T>C rs73025906 0.03818
NM_001040142.2(SCN2A):c.2017-89A>G rs74598858 0.03512
NM_001040142.2(SCN2A):c.1035-298T>A rs3816001 0.03371
NM_001040142.2(SCN2A):c.2919+240T>A rs57398893 0.03244
NM_001040142.2(SCN2A):c.3676-55A>G rs72874371 0.03221
NM_001040142.2(SCN2A):c.1035-163A>G rs17244080 0.03211
NM_001040142.2(SCN2A):c.268-252A>G rs73023741 0.02905
NM_001040142.2(SCN2A):c.267+51G>A rs111535588 0.02584
NM_001040142.2(SCN2A):c.4308+205A>G rs113651098 0.02008
NM_001040142.2(SCN2A):c.1383+189A>C rs73023770 0.01872
NM_001040142.2(SCN2A):c.4255-92T>C rs73969390 0.01759
NM_001040142.2(SCN2A):c.4308+286C>G rs73969392 0.01755
NM_001040142.2(SCN2A):c.4308+283T>A rs73969391 0.01753
NM_001040142.2(SCN2A):c.4308+208T>C rs11898900 0.01706
NM_001040142.2(SCN2A):c.3850-330C>T rs73969388 0.01681
NM_001040142.2(SCN2A):c.2150-67T>C rs56246310 0.01542
NM_001040142.2(SCN2A):c.4552-50C>T rs150453735 0.01105
NM_001040142.2(SCN2A):c.1785T>C (p.Asp595=) rs141815642 0.01027
NM_001040142.2(SCN2A):c.971-32A>G rs2304016 0.00471
NM_001040142.2(SCN2A):c.2017-38A>G rs79920892 0.00277
NM_001040142.2(SCN2A):c.387-10G>A rs2304015 0.00277
NM_001040142.2(SCN2A):c.2389-48G>A rs114270465 0.00198
NM_001040142.2(SCN2A):c.3453C>T (p.Pro1151=) rs145662546 0.00166
NM_001040142.2(SCN2A):c.5229A>G (p.Lys1743=) rs2227898 0.00144
NM_001040142.2(SCN2A):c.5446G>T (p.Ala1816Ser) rs147084515 0.00079
NM_001040142.2(SCN2A):c.897A>G (p.Ser299=) rs143765389 0.00076
NM_001040142.2(SCN2A):c.5505C>T (p.Asn1835=) rs6706924 0.00068
NM_001040142.2(SCN2A):c.100G>A (p.Ala34Thr) rs144814658 0.00063
NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala) rs184769423 0.00032
NM_001040142.2(SCN2A):c.4823-24T>G rs542908287 0.00031
NM_001040142.2(SCN2A):c.2149+51A>G rs370086705 0.00030
NM_001040142.2(SCN2A):c.82C>T (p.Arg28Cys) rs200884216 0.00027
NM_001040142.2(SCN2A):c.2923C>T (p.Leu975=) rs375858093 0.00025
NM_001040142.2(SCN2A):c.5397T>C (p.Tyr1799=) rs200603552 0.00023
NM_001040142.2(SCN2A):c.1383+50T>C rs574535588 0.00019
NM_001040142.2(SCN2A):c.1035-7A>C rs558800241 0.00017
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala) rs147522594 0.00016
NM_001040142.2(SCN2A):c.5468A>C (p.Asp1823Ala) rs138497939 0.00015
NM_001040142.2(SCN2A):c.960T>C (p.Ile320=) rs185590667 0.00014
NM_001040142.2(SCN2A):c.5364G>A (p.Glu1788=) rs199925238 0.00012
NM_001040142.2(SCN2A):c.3372C>T (p.Ser1124=) rs571408286 0.00008
NM_001040142.2(SCN2A):c.1959G>A (p.Val653=) rs200546427 0.00006
NM_001040142.2(SCN2A):c.*46C>T rs756838127 0.00004
NM_001040142.2(SCN2A):c.1571G>A (p.Arg524Gln) rs186154973 0.00004
NM_001040142.2(SCN2A):c.3399+26T>A rs200281442 0.00004
NM_001040142.2(SCN2A):c.2673C>T (p.Ile891=) rs529842407 0.00003
NM_001040142.2(SCN2A):c.2083T>C (p.Leu695=) rs368043574 0.00002
NM_001040142.2(SCN2A):c.5994A>G (p.Lys1998=) rs745810335 0.00002
NM_001040142.2(SCN2A):c.1034+14C>T rs771610189 0.00001
NM_001040142.2(SCN2A):c.5427G>A (p.Ala1809=) rs1177406324 0.00001
NM_001040142.2(SCN2A):c.-51-1722_-51-1720dup
NM_001040142.2(SCN2A):c.1176+43C>T rs377365519
NM_001040142.2(SCN2A):c.2149+182_2149+183del rs66861006
NM_001040142.2(SCN2A):c.2149+183del rs66861006
NM_001040142.2(SCN2A):c.268-150dup rs139906774
NM_001040142.2(SCN2A):c.268-321dup rs67944134
NM_001040142.2(SCN2A):c.2920-265del rs201300416
NM_001040142.2(SCN2A):c.2920-279_2920-272del rs201277197
NM_001040142.2(SCN2A):c.3400-74del rs3835933
NM_001040142.2(SCN2A):c.3400-75_3400-74del rs3835933
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_001040142.2(SCN2A):c.3520+111TATC[5] rs3835934
NM_001040142.2(SCN2A):c.3520+111TATC[7] rs3835934
NM_001040142.2(SCN2A):c.3520+184_3520+185dup rs3835935
NM_001040142.2(SCN2A):c.3520+185dup rs3835935
NM_001040142.2(SCN2A):c.387-135del rs3214603
NM_001040142.2(SCN2A):c.387-34C>T rs536903726
NM_001040142.2(SCN2A):c.4539A>T (p.Ile1513=) rs200553623
NM_001040142.2(SCN2A):c.519A>G (p.Lys173=) rs200941759
NM_001040142.2(SCN2A):c.70G>A (p.Ala24Thr) rs527452801

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