ClinVar Miner

List of variants studied for Hypotonia, ataxia, and delayed development syndrome

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Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_001375380.1(EBF3):c.1342G>A (p.Val448Met) rs773093643 0.00001
NM_001375380.1(EBF3):c.1351A>G (p.Thr451Ala) rs1850109343 0.00001
NM_001375380.1(EBF3):c.1372+3A>G rs779628419 0.00001
NM_001375380.1(EBF3):c.220C>T (p.Leu74Phe) rs1251711247 0.00001
NM_001375380.1(EBF3):c.856G>A (p.Asp286Asn) rs774203238 0.00001
NC_000010.10:g.(131676114_131755521)_(131762539_?)del
NM_001375380.1(EBF3):c.1128+1G>C rs797046136
NM_001375380.1(EBF3):c.1151C>T (p.Ala384Val) rs1268207836
NM_001375380.1(EBF3):c.1185_1186del (p.His395fs)
NM_001375380.1(EBF3):c.1210C>T (p.Arg404Ter) rs1564816319
NM_001375380.1(EBF3):c.1346C>G (p.Ser449Ter)
NM_001375380.1(EBF3):c.1408C>T (p.Arg470Ter) rs1259041590
NM_001375380.1(EBF3):c.1435C>T (p.Gln479Ter)
NM_001375380.1(EBF3):c.1454_1455del (p.Thr485fs)
NM_001375380.1(EBF3):c.163G>T (p.Glu55Ter) rs1589974634
NM_001375380.1(EBF3):c.1873C>T (p.Leu625=)
NM_001375380.1(EBF3):c.1875A>G (p.Leu625=)
NM_001375380.1(EBF3):c.187C>T (p.Arg63Trp) rs2134659512
NM_001375380.1(EBF3):c.188G>A (p.Arg63Gln) rs2134659487
NM_001375380.1(EBF3):c.196A>G (p.Asn66Asp) rs1057519518
NM_001375380.1(EBF3):c.239dup (p.Pro81fs) rs2134659091
NM_001375380.1(EBF3):c.280_283del (p.Glu94fs) rs1057519521
NM_001375380.1(EBF3):c.291+2del rs1859684125
NM_001375380.1(EBF3):c.301A>G (p.Asn101Asp)
NM_001375380.1(EBF3):c.326A>C (p.His109Pro) rs1484783852
NM_001375380.1(EBF3):c.356-4G>C
NM_001375380.1(EBF3):c.370C>A (p.Gln124Lys)
NM_001375380.1(EBF3):c.373G>A (p.Asp125Asn) rs2134649012
NM_001375380.1(EBF3):c.412-2A>T rs1859264278
NM_001375380.1(EBF3):c.422A>G (p.Tyr141Cys) rs1057519519
NM_001375380.1(EBF3):c.428G>A (p.Gly143Asp) rs1589962586
NM_001375380.1(EBF3):c.454C>T (p.Arg152Cys) rs2134623972
NM_001375380.1(EBF3):c.455G>C (p.Arg152Pro)
NM_001375380.1(EBF3):c.461_462delinsCT (p.Leu154Pro) rs1564927062
NM_001375380.1(EBF3):c.481T>A (p.Cys161Ser) rs1859258788
NM_001375380.1(EBF3):c.486-10T>G rs2134611078
NM_001375380.1(EBF3):c.486-12A>G
NM_001375380.1(EBF3):c.486-1G>A rs1131692258
NM_001375380.1(EBF3):c.487C>G (p.Arg163Gly) rs1057519092
NM_001375380.1(EBF3):c.487C>T (p.Arg163Trp) rs1057519092
NM_001375380.1(EBF3):c.488G>A (p.Arg163Gln) rs1057519389
NM_001375380.1(EBF3):c.488G>C (p.Arg163Pro) rs1057519389
NM_001375380.1(EBF3):c.488G>T (p.Arg163Leu) rs1057519389
NM_001375380.1(EBF3):c.491G>C (p.Cys164Ser) rs2134610864
NM_001375380.1(EBF3):c.505A>G (p.Ser169Gly) rs2134610777
NM_001375380.1(EBF3):c.512G>A (p.Gly171Asp) rs1057519437
NM_001375380.1(EBF3):c.530C>T (p.Pro177Leu) rs869312668
NM_001375380.1(EBF3):c.548_551del (p.Ile183fs) rs2134610480
NM_001375380.1(EBF3):c.554+5G>A rs2134610433
NM_001375380.1(EBF3):c.554G>A (p.Arg185Lys) rs1554934855
NM_001375380.1(EBF3):c.554G>C (p.Arg185Thr)
NM_001375380.1(EBF3):c.574_576del (p.Leu192del) rs2134129924
NM_001375380.1(EBF3):c.579G>T (p.Lys193Asn) rs1057519520
NM_001375380.1(EBF3):c.589A>G (p.Asn197Asp) rs2134129845
NM_001375380.1(EBF3):c.593G>A (p.Cys198Tyr) rs1554904330
NM_001375380.1(EBF3):c.612C>A (p.Asn204Lys)
NM_001375380.1(EBF3):c.616C>T (p.Arg206Ter) rs1057519522
NM_001375380.1(EBF3):c.622dup (p.Met208fs) rs2134129705
NM_001375380.1(EBF3):c.625C>T (p.Arg209Trp) rs779003155
NM_001375380.1(EBF3):c.626G>A (p.Arg209Gln) rs1131692261
NM_001375380.1(EBF3):c.631T>C (p.Phe211Leu) rs2134129636
NM_001375380.1(EBF3):c.636+1G>A rs1589767274
NM_001375380.1(EBF3):c.656T>C (p.Val219Ala) rs1852554969
NM_001375380.1(EBF3):c.663_685del (p.Asp222fs)
NM_001375380.1(EBF3):c.66C>G (p.Ser22Arg)
NM_001375380.1(EBF3):c.701T>C (p.Val234Ala)
NM_001375380.1(EBF3):c.705CAA[1] (p.Asn237del) rs2134108087
NM_001375380.1(EBF3):c.737G>A (p.Arg246His)
NM_001375380.1(EBF3):c.828G>A (p.Thr276=)
NM_001375380.1(EBF3):c.82C>A (p.Arg28Ser) rs747420051
NM_001375380.1(EBF3):c.833del (p.Gly278fs) rs1589745620
NM_001375380.1(EBF3):c.833dup (p.Ala279fs) rs1589745620
NM_001375380.1(EBF3):c.934C>T (p.Arg312Ter) rs1064796669
NM_001375380.1(EBF3):c.947C>T (p.Pro316Leu)
NM_001375380.1(EBF3):c.947dup (p.Pro317fs)
NM_001375380.1(EBF3):c.950C>T (p.Pro317Leu)
NM_001375380.1(EBF3):c.967G>A (p.Val323Ile)

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