ClinVar Miner

List of variants studied for X-linked epilepsy-learning disabilities-behavior disorders syndrome by Invitae

Included ClinVar conditions (1):
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Total variants: 45
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HGVS dbSNP
NC_000023.11:g.(?_47572844)_(47605399_?)del
NC_000023.11:g.(?_47572844)_(47619748_?)dup
NC_000023.11:g.(?_47604958)_(47619748_?)dup
NM_006950.3(SYN1):c.371C>T (p.Thr124Ile) rs1339768860
NM_133499.2(SYN1):c.1056-14_1056-8delCTTTGTC rs377385507
NM_133499.2(SYN1):c.1063C>T (p.Leu355=) rs191822319
NM_133499.2(SYN1):c.1107C>T (p.Ile369=) rs150248483
NM_133499.2(SYN1):c.1110C>T (p.Cys370=) rs141925310
NM_133499.2(SYN1):c.1137C>T (p.Asp379=) rs762471804
NM_133499.2(SYN1):c.1159-7C>T rs767722750
NM_133499.2(SYN1):c.1198G>A (p.Asp400Asn) rs772668988
NM_133499.2(SYN1):c.1297C>T (p.His433Tyr) rs41298474
NM_133499.2(SYN1):c.1310C>T (p.Pro437Leu) rs895517774
NM_133499.2(SYN1):c.1325T>C (p.Leu442Pro) rs375440874
NM_133499.2(SYN1):c.1363C>T (p.Pro455Ser)
NM_133499.2(SYN1):c.1369G>C (p.Ala457Pro) rs748323076
NM_133499.2(SYN1):c.1389A>C (p.Pro463=) rs1435656023
NM_133499.2(SYN1):c.1493C>T (p.Pro498Leu)
NM_133499.2(SYN1):c.150T>G (p.Thr50=) rs1556861816
NM_133499.2(SYN1):c.152C>G (p.Ala51Gly) rs187134574
NM_133499.2(SYN1):c.1615G>A (p.Gly539Ser) rs794727076
NM_133499.2(SYN1):c.1629T>C (p.Pro543=) rs1027134708
NM_133499.2(SYN1):c.1667G>T (p.Arg556Leu)
NM_133499.2(SYN1):c.1699A>G (p.Thr567Ala) rs200533370
NM_133499.2(SYN1):c.1701A>T (p.Thr567=) rs770195822
NM_133499.2(SYN1):c.1815C>T (p.Ser605=) rs1452773137
NM_133499.2(SYN1):c.1818G>A (p.Gln606=) rs967215240
NM_133499.2(SYN1):c.184T>G (p.Ser62Ala) rs1294224206
NM_133499.2(SYN1):c.189G>T (p.Pro63=) rs371739376
NM_133499.2(SYN1):c.1944C>T (p.Ala648=) rs1556857414
NM_133499.2(SYN1):c.1968G>A (p.Pro656=) rs199844514
NM_133499.2(SYN1):c.213G>A (p.Ser71=)
NM_133499.2(SYN1):c.350T>C (p.Leu117Pro) rs1556861785
NM_133499.2(SYN1):c.360C>A (p.Asp120Glu) rs372165835
NM_133499.2(SYN1):c.426A>G (p.Lys142=) rs145911562
NM_133499.2(SYN1):c.473A>G (p.Asn158Ser) rs765486966
NM_133499.2(SYN1):c.526C>T (p.Arg176Trp) rs769458536
NM_133499.2(SYN1):c.528-2A>T rs1556860663
NM_133499.2(SYN1):c.579A>G (p.Ala193=) rs1556860653
NM_133499.2(SYN1):c.581G>A (p.Arg194His)
NM_133499.2(SYN1):c.756C>T (p.Tyr252=) rs1556860614
NM_133499.2(SYN1):c.838-8T>G rs12394306
NM_133499.2(SYN1):c.883G>A (p.Val295Met) rs1085307749
NM_133499.2(SYN1):c.912C>T (p.Ala304=) rs62636605
NM_133499.2(SYN1):c.939C>T (p.Asp313=) rs373928763

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