ClinVar Miner

List of variants studied for Segawa syndrome, autosomal recessive by Counsyl

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Total variants: 61
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HGVS dbSNP
NM_000360.3(TH):c.-71C>T rs549435434
NM_199292.2(TH):c.-69T>A rs1554924394
NM_199292.3(TH):c.100C>T (p.Gln34Ter) rs1554924321
NM_199292.3(TH):c.1010G>A (p.Arg337His) rs28934580
NM_199292.3(TH):c.1014del (p.Phe339fs) rs1057516491
NM_199292.3(TH):c.102+14G>A rs191356744
NM_199292.3(TH):c.102+1G>A rs77140743
NM_199292.3(TH):c.102+1G>T rs77140743
NM_199292.3(TH):c.103-1G>A rs1554924111
NM_199292.3(TH):c.103-2A>C rs1554924114
NM_199292.3(TH):c.106_117del (p.Ala36_Pro39del) rs1554924102
NM_199292.3(TH):c.1070+1G>A rs1057516736
NM_199292.3(TH):c.1090del (p.Leu364fs) rs1057517162
NM_199292.3(TH):c.110C>T (p.Pro37Leu) rs775961364
NM_199292.3(TH):c.1145T>C (p.Ile382Thr) rs1554922725
NM_199292.3(TH):c.1197+1G>A rs1057516819
NM_199292.3(TH):c.1222G>A (p.Gly408Arg) rs745551241
NM_199292.3(TH):c.1269_1273del (p.Ser425fs) rs1554922593
NM_199292.3(TH):c.1293+5G>C rs774895306
NM_199292.3(TH):c.12_43del (p.Asp5fs) rs1554924357
NM_199292.3(TH):c.12dup (p.Asp5fs) rs1057516716
NM_199292.3(TH):c.131C>T (p.Ser44Phe) rs1313952475
NM_199292.3(TH):c.1359C>A (p.Tyr453Ter) rs1554922441
NM_199292.3(TH):c.1375C>T (p.Gln459Ter) rs786204540
NM_199292.3(TH):c.1375del (p.Gln459fs) rs1554922434
NM_199292.3(TH):c.1394C>G (p.Ser465Cys) rs767211543
NM_199292.3(TH):c.1428-1G>A rs1554922200
NM_199292.3(TH):c.1475C>G (p.Pro492Arg) rs767635052
NM_199292.3(TH):c.1493A>G (p.Asp498Gly) rs771351747
NM_199292.3(TH):c.164C>T (p.Ser55Phe) rs1195830888
NM_199292.3(TH):c.183+1G>A rs753403788
NM_199292.3(TH):c.184-9_200del rs1057516874
NM_199292.3(TH):c.296del (p.Leu99fs) rs1554923852
NM_199292.3(TH):c.2T>C (p.Met1Thr) rs201932766
NM_199292.3(TH):c.371_389dup (p.Val131fs) rs1554923810
NM_199292.3(TH):c.385C>T (p.Arg129Ter) rs1057519220
NM_199292.3(TH):c.405+1G>A rs1554923802
NM_199292.3(TH):c.457C>T (p.Arg153Ter) rs771610752
NM_199292.3(TH):c.580+1G>A rs1554923513
NM_199292.3(TH):c.580+1G>C rs1554923513
NM_199292.3(TH):c.580+2T>C rs1057517003
NM_199292.3(TH):c.692G>C (p.Arg231Pro) rs201224335
NM_199292.3(TH):c.694C>T (p.Gln232Ter) rs1057517423
NM_199292.3(TH):c.698G>A (p.Arg233His) rs80338892
NM_199292.3(TH):c.707T>C (p.Leu236Pro) rs121917763
NM_199292.3(TH):c.718_729del (p.Ile240_Gln243del) rs1554923325
NM_199292.3(TH):c.721G>A (p.Ala241Thr) rs1260455415
NM_199292.3(TH):c.737+1G>A rs1266265578
NM_199292.3(TH):c.737+2T>A rs1554923317
NM_199292.3(TH):c.737_737+15del rs1554923305
NM_199292.3(TH):c.772G>A (p.Glu258Lys) rs536382000
NM_199292.3(TH):c.789-2A>G rs1554923121
NM_199292.3(TH):c.810del (p.Lys271fs) rs1057516712
NM_199292.3(TH):c.842A>T (p.Glu281Val) rs878855309
NM_199292.3(TH):c.880G>C (p.Gly294Arg) rs755536257
NM_199292.3(TH):c.91G>T (p.Val31Leu) rs1554924329
NM_199292.3(TH):c.92_93dup (p.Arg32Ter) rs1554924328
NM_199292.3(TH):c.938dup (p.Thr314fs) rs1554923004
NM_199292.3(TH):c.941C>T (p.Thr314Met) rs121917764
NM_199292.3(TH):c.943G>A (p.Gly315Ser) rs1288483479
NM_199292.3(TH):c.99dup (p.Gln34fs) rs780485650

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