List of variants studied for Fowler syndrome

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Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_017791.3(FLVCR2):c.648C>G (p.Ser216=)	rs2287017	0.37676
NM_017791.3(FLVCR2):c.47T>C (p.Val16Ala)	rs2287015	0.37653
NM_017791.2(FLVCR2):c.-356G>C	rs3813550	0.11387
NM_017791.3(FLVCR2):c.*734del	rs538801836	0.00377
NM_017791.3(FLVCR2):c.1411_1412del	rs764857255	0.00016
NM_017791.3(FLVCR2):c.1019C>T (p.Pro340Leu)	rs750773606	0.00004
NM_017791.3(FLVCR2):c.1289C>T (p.Thr430Met)	rs267606825	0.00004
NM_017791.3(FLVCR2):c.*1085T>G	rs886050790	0.00001
NM_017791.3(FLVCR2):c.1192C>G (p.Leu398Val)	rs267606822	0.00001
NM_017791.3(FLVCR2):c.1318G>A (p.Gly440Ser)	rs752732384	0.00001
NM_017791.3(FLVCR2):c.329_334del (p.Asn110_Phe112delinsIle)	rs746459536	0.00001
NM_017791.3(FLVCR2):c.402C>G (p.Tyr134Ter)	rs759296326	0.00001
NM_017791.3(FLVCR2):c.839C>G (p.Pro280Arg)	rs267606823	0.00001
NM_017791.3(FLVCR2):c.*1413GT[9]	rs138622317
NM_017791.3(FLVCR2):c.-121CT[1]	rs1322268460
NM_017791.3(FLVCR2):c.1276G>A (p.Ala426Thr)
NM_017791.3(FLVCR2):c.1289C>G (p.Thr430Arg)	rs267606825
NM_017791.3(FLVCR2):c.1341+2T>C	rs780523767
NM_017791.3(FLVCR2):c.391dup (p.Met131fs)	rs1594785775
NM_017791.3(FLVCR2):c.473C>A (p.Ser158Ter)	rs138495705
NM_017791.3(FLVCR2):c.543G>A (p.Val181=)	rs2287016
NM_017791.3(FLVCR2):c.908G>A (p.Arg303Gln)
NM_017791.3(FLVCR2):c.977C>T (p.Ala326Val)	rs267606824

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