ClinVar Miner

List of variants in gene SCN1A reported as likely pathogenic by GeneDx

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Gene type:
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Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.1498C>T (p.Arg500Trp) rs141188608 0.00001
NM_001165963.4(SCN1A):c.2240T>C (p.Ile747Thr) rs980156920 0.00001
NM_001165963.4(SCN1A):c.264A>C (p.Lys88Asn) rs1025532519 0.00001
NM_001165963.4(SCN1A):c.2686G>A (p.Val896Ile) rs745378416 0.00001
NM_001165963.4(SCN1A):c.2911G>A (p.Val971Ile) rs748816300 0.00001
NM_001165963.4(SCN1A):c.413T>G (p.Ile138Ser) rs1553552390 0.00001
NM_001165963.4(SCN1A):c.652T>C (p.Phe218Leu) rs970867558 0.00001
NM_001165963.4(SCN1A):c.661C>G (p.Leu221Val) rs886039456 0.00001
NM_001165963.4(SCN1A):c.1024G>T (p.Ala342Ser) rs794726843
NM_001165963.4(SCN1A):c.1027G>A (p.Gly343Ser) rs1553548063
NM_001165963.4(SCN1A):c.1069A>T (p.Asn357Tyr) rs1057524752
NM_001165963.4(SCN1A):c.1087A>C (p.Thr363Pro) rs1131691465
NM_001165963.4(SCN1A):c.1090A>C (p.Ser364Arg) rs1057518094
NM_001165963.4(SCN1A):c.1096G>C (p.Asp366His) rs750209664
NM_001165963.4(SCN1A):c.1112C>T (p.Ala371Val) rs796052971
NM_001165963.4(SCN1A):c.1130G>A (p.Arg377Gln) rs121917957
NM_001165963.4(SCN1A):c.1141C>G (p.Gln381Glu) rs1553547403
NM_001165963.4(SCN1A):c.1170+5G>C rs1057524737
NM_001165963.4(SCN1A):c.1184C>G (p.Ala395Gly)
NM_001165963.4(SCN1A):c.1195T>G (p.Tyr399Asp) rs796052974
NM_001165963.4(SCN1A):c.1204T>C (p.Phe402Leu) rs796053094
NM_001165963.4(SCN1A):c.1261G>A (p.Val421Met) rs781507889
NM_001165963.4(SCN1A):c.1363C>T (p.Gln455Ter) rs1064796824
NM_001165963.4(SCN1A):c.1633T>C (p.Tyr545His) rs1064794913
NM_001165963.4(SCN1A):c.1660C>T (p.Gln554Ter) rs1064795620
NM_001165963.4(SCN1A):c.1867A>C (p.Ser623Arg)
NM_001165963.4(SCN1A):c.203T>G (p.Ile68Ser) rs758871507
NM_001165963.4(SCN1A):c.2043+1G>A rs751533302
NM_001165963.4(SCN1A):c.2111dup (p.Glu705fs) rs1064795227
NM_001165963.4(SCN1A):c.2314del (p.Leu772fs) rs1064794508
NM_001165963.4(SCN1A):c.2354T>C (p.Met785Thr) rs796053095
NM_001165963.4(SCN1A):c.2360T>C (p.Met787Thr) rs773695263
NM_001165963.4(SCN1A):c.2362G>A (p.Glu788Lys) rs1057517959
NM_001165963.4(SCN1A):c.243C>G (p.Asp81Glu) rs796053016
NM_001165963.4(SCN1A):c.2569G>A (p.Val857Ile) rs796052982
NM_001165963.4(SCN1A):c.2590C>A (p.Leu864Met) rs140035595
NM_001165963.4(SCN1A):c.2594G>A (p.Arg865Gln) rs1057517862
NM_001165963.4(SCN1A):c.2606T>C (p.Leu869Ser) rs1057518110
NM_001165963.4(SCN1A):c.2644A>T (p.Ile882Phe) rs1064797019
NM_001165963.4(SCN1A):c.2665G>A (p.Ala889Thr) rs1266877537
NM_001165963.4(SCN1A):c.2681C>G (p.Thr894Ser) rs796052983
NM_001165963.4(SCN1A):c.2722G>C (p.Gly908Arg) rs796052984
NM_001165963.4(SCN1A):c.2729A>G (p.Gln910Arg) rs1064795735
NM_001165963.4(SCN1A):c.2799C>A (p.His933Gln) rs1064795736
NM_001165963.4(SCN1A):c.2815C>T (p.His939Tyr) rs121918736
NM_001165963.4(SCN1A):c.2819C>T (p.Ser940Phe) rs1057521080
NM_001165963.4(SCN1A):c.2839G>A (p.Val947Met) rs796052986
NM_001165963.4(SCN1A):c.2843T>C (p.Leu948Pro) rs2105806501
NM_001165963.4(SCN1A):c.2897_2910del (p.Ala966fs) rs1553541066
NM_001165963.4(SCN1A):c.2927T>C (p.Met976Thr) rs1057518325
NM_001165963.4(SCN1A):c.2941C>A (p.Leu981Ile) rs1057518112
NM_001165963.4(SCN1A):c.2955T>G (p.Asn985Lys) rs2105797652
NM_001165963.4(SCN1A):c.2966C>T (p.Ala989Val) rs796052990
NM_001165963.4(SCN1A):c.2970G>T (p.Leu990Phe)
NM_001165963.4(SCN1A):c.2979_2992del (p.Ser993fs) rs1553540464
NM_001165963.4(SCN1A):c.344A>G (p.Asn115Ser) rs1699357096
NM_001165963.4(SCN1A):c.350T>C (p.Leu117Pro) rs1064796384
NM_001165963.4(SCN1A):c.366T>G (p.Ile122Met) rs752918105
NM_001165963.4(SCN1A):c.383+5C>A rs1060502185
NM_001165963.4(SCN1A):c.417G>C (p.Leu139Phe) rs1699149959
NM_001165963.4(SCN1A):c.472G>C (p.Glu158Gln) rs796053090
NM_001165963.4(SCN1A):c.473+5G>C rs1064794634
NM_001165963.4(SCN1A):c.502G>C (p.Glu168Gln)
NM_001165963.4(SCN1A):c.505T>C (p.Ser169Pro) rs796052957
NM_001165963.4(SCN1A):c.509T>C (p.Leu170Pro) rs1064793315
NM_001165963.4(SCN1A):c.519T>G (p.Ile173Met) rs1283681963
NM_001165963.4(SCN1A):c.596C>T (p.Thr199Ile) rs121917983
NM_001165963.4(SCN1A):c.632A>G (p.Asn211Ser) rs1553550618
NM_001165963.4(SCN1A):c.656G>C (p.Arg219Thr) rs796052960
NM_001165963.4(SCN1A):c.657A>T (p.Arg219Ser) rs727504143
NM_001165963.4(SCN1A):c.671T>C (p.Leu224Ser) rs796053091
NM_001165963.4(SCN1A):c.672G>C (p.Leu224Phe)
NM_001165963.4(SCN1A):c.731T>C (p.Val244Ala) rs1553549902
NM_001165963.4(SCN1A):c.748G>A (p.Val250Ile) rs796052962
NM_001165963.4(SCN1A):c.749T>A (p.Val250Glu) rs1553549845
NM_001165963.4(SCN1A):c.769T>C (p.Cys257Arg) rs794726771
NM_001165963.4(SCN1A):c.800A>C (p.Gln267Pro) rs200034964
NM_001165963.4(SCN1A):c.810G>A (p.Met270Ile) rs2105889888
NM_001165963.4(SCN1A):c.818T>C (p.Leu273Pro) rs1085307892
NM_001165963.4(SCN1A):c.827A>T (p.Lys276Ile) rs796052963
NM_001165963.4(SCN1A):c.964+5G>A rs796052965
NM_001165963.4(SCN1A):c.971A>G (p.His324Arg) rs796053093
NM_001165963.4(SCN1A):c.985G>T (p.Gly329Cys) rs781746113

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