ClinVar Miner

List of variants studied for West syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_000834.5(GRIN2B):c.2691C>T (p.Asn897=) rs35125534 0.01112
NM_001130438.3(SPTAN1):c.2194-13T>G rs28676915 0.00932
NM_001130438.3(SPTAN1):c.5925G>A (p.Ala1975=) rs11543345 0.00816
NM_173354.5(SIK1):c.2087C>T (p.Pro696Leu) rs56386767 0.00709
NM_001130438.3(SPTAN1):c.3520-14C>G rs142682344 0.00575
NM_173354.5(SIK1):c.1215G>A (p.Met405Ile) rs34987632 0.00446
NM_001130438.3(SPTAN1):c.652-6G>A rs115815276 0.00436
NM_001130438.3(SPTAN1):c.5019G>A (p.Lys1673=) rs114745823 0.00429
NM_001323289.2(CDKL5):c.145+17A>G rs199814742 0.00355
NM_001130438.3(SPTAN1):c.931-16C>T rs149289060 0.00285
NM_001130438.3(SPTAN1):c.774G>A (p.Gln258=) rs138609094 0.00257
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala) rs144787939 0.00217
NM_015192.4(PLCB1):c.3120A>G (p.Gln1040=) rs61755436 0.00213
NM_001130438.3(SPTAN1):c.5775C>T (p.Thr1925=) rs140353002 0.00130
NM_173354.5(SIK1):c.1119+7G>A rs201075575 0.00128
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu) rs143108250 0.00073
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100 0.00054
NM_001130438.3(SPTAN1):c.7319G>A (p.Arg2440Gln) rs141980692 0.00029
NM_001130438.3(SPTAN1):c.4536C>T (p.Ile1512=) rs367772623 0.00027
NM_006279.5(ST3GAL3):c.362G>A (p.Arg121Gln) rs201287443 0.00027
NM_000834.5(GRIN2B):c.3549G>A (p.Thr1183=) rs201568782 0.00024
NM_001130438.3(SPTAN1):c.2025T>C (p.Arg675=) rs145870898 0.00024
NM_001130438.3(SPTAN1):c.7396G>A (p.Asp2466Asn) rs367776636 0.00019
NM_015192.4(PLCB1):c.2474A>G (p.Lys825Arg) rs146646749 0.00019
NM_173354.5(SIK1):c.1843_1844insT (p.Ala615fs) rs1474186338 0.00019
NM_001130438.3(SPTAN1):c.2344G>A (p.Asp782Asn) rs199720383 0.00014
NM_015192.4(PLCB1):c.116C>T (p.Thr39Ile) rs751520312 0.00014
NM_006279.5(ST3GAL3):c.400A>T (p.Asn134Tyr) rs201834329 0.00013
NM_001130438.3(SPTAN1):c.4243G>C (p.Glu1415Gln) rs745697305 0.00010
NM_173354.5(SIK1):c.1457C>T (p.Ala486Val) rs369897512 0.00010
NM_139058.3(ARX):c.1170C>T (p.Gly390=) rs761632870 0.00006
NM_173354.5(SIK1):c.1934G>A (p.Arg645Gln) rs34614061 0.00006
NM_173354.5(SIK1):c.207G>A (p.Glu69=) rs201818967 0.00006
NM_173354.5(SIK1):c.855G>A (p.Pro285=) rs549052367 0.00006
NM_001323289.2(CDKL5):c.2243A>G (p.Asn748Ser) rs748459878 0.00005
NM_006279.5(ST3GAL3):c.1070A>T (p.Glu357Val) rs141947405 0.00004
NM_139058.3(ARX):c.1450C>T (p.Leu484Phe) rs752649243 0.00004
NM_000834.5(GRIN2B):c.2845T>C (p.Tyr949His) rs201982602 0.00003
NM_015192.4(PLCB1):c.3095G>A (p.Arg1032Gln) rs780373377 0.00003
NM_173354.5(SIK1):c.2243G>A (p.Arg748His) rs375516507 0.00003
NM_173354.5(SIK1):c.365G>A (p.Ser122Asn) rs745541081 0.00003
NM_000834.5(GRIN2B):c.3647G>A (p.Arg1216His) rs757636470 0.00002
NM_000834.5(GRIN2B):c.4105G>A (p.Gly1369Ser) rs371190262 0.00002
NM_000330.4(RS1):c.326+1159C>G rs587783160 0.00001
NM_000834.5(GRIN2B):c.2759G>A (p.Ser920Asn) rs781442804 0.00001
NM_001130438.3(SPTAN1):c.1697G>A (p.Arg566Gln) rs370304886 0.00001
NM_001130438.3(SPTAN1):c.2838C>G (p.Ile946Met) rs943636575 0.00001
NM_001130438.3(SPTAN1):c.7256G>A (p.Arg2419Gln) rs772995493 0.00001
NM_001130438.3(SPTAN1):c.776G>A (p.Arg259His) rs772367229 0.00001
NM_001323289.2(CDKL5):c.1196A>C (p.Asn399Thr) rs267608611 0.00001
NM_015192.4(PLCB1):c.1711G>A (p.Val571Met) rs1394924865 0.00001
NM_139058.3(ARX):c.187G>A (p.Ala63Thr) rs769996976 0.00001
NM_139058.3(ARX):c.807C>T (p.Ala269=) rs587783205 0.00001
NM_000834.5(GRIN2B):c.4307G>C (p.Gly1436Ala) rs1565452616
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter) rs267608395
NM_006279.5(ST3GAL3):c.348G>C (p.Lys116Asn) rs1365012948
NM_015192.4(PLCB1):c.3336+3A>G rs773248262
NM_139058.3(ARX):c.260G>C (p.Arg87Pro) rs786203995
NM_139058.3(ARX):c.306GGC[4] (p.Ala110_Ala115del) rs387906492
NM_139058.3(ARX):c.994C>G (p.Arg332Gly) rs2147323593

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