ClinVar Miner

List of variants in gene FGD1 studied for X-linked disease

Included ClinVar conditions (311):
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Total variants: 28
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HGVS dbSNP
FGD1, 1-BP DEL, 2189A
FGD1, 1-BP INS, 2122G
FGD1, EX9-12DEL
NM_004463.3(FGD1):c.1143_1145del (p.Leu382del)
NM_004463.3(FGD1):c.1223G>A (p.Arg408Gln) rs137853265
NM_004463.3(FGD1):c.1241C>T (p.Pro414Leu) rs1557189455
NM_004463.3(FGD1):c.1328G>T (p.Arg443Leu) rs137853266
NM_004463.3(FGD1):c.1396A>G (p.Met466Val) rs137853267
NM_004463.3(FGD1):c.1445_1447dup (p.Asn482dup) rs1557189266
NM_004463.3(FGD1):c.1452G>A (p.Trp484Ter)
NM_004463.3(FGD1):c.1565G>A (p.Arg522His) rs137853264
NM_004463.3(FGD1):c.1590T>A (p.Tyr530Ter)
NM_004463.3(FGD1):c.1733T>C (p.Leu578Ser) rs1557188567
NM_004463.3(FGD1):c.1829G>A (p.Arg610Gln) rs28935497
NM_004463.3(FGD1):c.1843-1G>A
NM_004463.3(FGD1):c.1966C>T (p.Arg656Ter) rs387906718
NM_004463.3(FGD1):c.2006T>G (p.Leu669Arg) rs1557188473
NM_004463.3(FGD1):c.277dup (p.Tyr93fs) rs1557191567
NM_004463.3(FGD1):c.386G>A (p.Gly129Asp)
NM_004463.3(FGD1):c.395G>A (p.Arg132Gln) rs145644275
NM_004463.3(FGD1):c.437A>G (p.Gln146Arg)
NM_004463.3(FGD1):c.527del (p.Pro176fs) rs756586058
NM_004463.3(FGD1):c.527dup (p.Leu177fs) rs756586058
NM_004463.3(FGD1):c.598C>T (p.Pro200Ser) rs773941303
NM_004463.3(FGD1):c.679del (p.Ser227fs)
NM_004463.3(FGD1):c.892dup (p.Cys298fs) rs1557189608
NM_004463.3(FGD1):c.935C>T (p.Pro312Leu) rs28935498
NM_004463.3(FGD1):c.944dup (p.Ala316fs) rs1569541255

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