ClinVar Miner

List of variants in gene FMN2 studied for autosomal recessive non-syndromic intellectual disability

Included ClinVar conditions (71):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_020066.5(FMN2):c.3442A>G (p.Arg1148Gly) rs12732924 0.45161
NM_020066.5(FMN2):c.1413C>A (p.Ala471=) rs10926124 0.38564
NM_020066.5(FMN2):c.2517C>G (p.Thr839=) rs10926166 0.34857
NM_020066.5(FMN2):c.4403G>A (p.Arg1468His) rs3795677 0.29272
NM_020066.5(FMN2):c.1830A>G (p.Ser610=) rs3765588 0.22473
NM_020066.5(FMN2):c.3216G>A (p.Ala1072=) rs71646895 0.04951
NM_020066.5(FMN2):c.2897T>C (p.Leu966Pro) rs200975594 0.04768
NM_020066.5(FMN2):c.2886A>G (p.Ala962=) rs199866405 0.00564
NM_020066.5(FMN2):c.1259A>C (p.Lys420Thr) rs146681532 0.00336
NM_020066.5(FMN2):c.5136T>G (p.Ser1712=) rs143796494 0.00330
NM_020066.5(FMN2):c.4619C>T (p.Ser1540Leu) rs150801382 0.00221
NM_020066.5(FMN2):c.575A>T (p.Gln192Leu) rs150505248 0.00044
NM_020066.5(FMN2):c.2200C>T (p.Arg734Trp) rs145706266 0.00020
NM_020066.5(FMN2):c.2297G>A (p.Arg766His) rs554313620 0.00011
NM_020066.5(FMN2):c.3560C>T (p.Pro1187Leu) rs372947608 0.00006
NM_020066.5(FMN2):c.2753C>T (p.Ala918Val) rs768693892 0.00005
NM_020066.5(FMN2):c.2240C>T (p.Ser747Phe) rs776610158 0.00001
NM_020066.5(FMN2):c.4865T>C (p.Ile1622Thr) rs1298917573 0.00001
NM_020066.5(FMN2):c.629A>G (p.Gln210Arg) rs1458799973 0.00001
NM_020066.5(FMN2):c.1054G>T (p.Asp352Tyr)
NM_020066.5(FMN2):c.1244C>T (p.Thr415Ile) rs200347646
NM_020066.5(FMN2):c.1378G>A (p.Ala460Thr) rs1463766241
NM_020066.5(FMN2):c.1394dup (p.Ala466fs) rs727502860
NM_020066.5(FMN2):c.1550del (p.Pro517fs) rs1390970926
NM_020066.5(FMN2):c.1591G>T (p.Asp531Tyr)
NM_020066.5(FMN2):c.1618C>T (p.Arg540Ter) rs1247510585
NM_020066.5(FMN2):c.162CGG[4] (p.Gly59del) rs71929261
NM_020066.5(FMN2):c.162del (p.Gly55fs) rs1572736047
NM_020066.5(FMN2):c.1748A>C (p.Asn583Thr)
NM_020066.5(FMN2):c.1861C>T (p.Arg621Ter) rs1426355851
NM_020066.5(FMN2):c.2233C>T (p.Gln745Ter)
NM_020066.5(FMN2):c.2515del (p.Thr839fs) rs727502861
NM_020066.5(FMN2):c.2806C>G (p.Pro936Ala)
NM_020066.5(FMN2):c.2842_2873del (p.Leu948fs)
NM_020066.5(FMN2):c.3131C>T (p.Pro1044Leu) rs202165125
NM_020066.5(FMN2):c.3230C>T (p.Pro1077Leu)
NM_020066.5(FMN2):c.3258_3323dup (p.Gly1126_Ala1127insValGlyIleProProProProProLeuProGlyAlaGlyIleProProProProProLeuProGly)
NM_020066.5(FMN2):c.3324TCC[1] (p.Pro1112del) rs780903069
NM_020066.5(FMN2):c.3442_3507del (p.Arg1148_Pro1169del)
NM_020066.5(FMN2):c.4468G>T (p.Val1490Phe)
NM_020066.5(FMN2):c.4666C>G (p.Leu1556Val)
NM_020066.5(FMN2):c.547A>T (p.Ile183Phe) rs757511770
NM_020066.5(FMN2):c.874C>T (p.Gln292Ter)
NM_020066.5(FMN2):c.884C>T (p.Ser295Phe)

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