ClinVar Miner

List of variants reported as uncertain significance for X-linked epilepsy-learning disabilities-behavior disorders syndrome by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 24
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HGVS dbSNP
NC_000023.10:g.(?_47432243)_(47464798_?)del
NC_000023.10:g.(?_47432243)_(47479147_?)dup
NC_000023.10:g.(?_47464357)_(47479147_?)dup
NM_006950.3(SYN1):c.1198G>A (p.Asp400Asn) rs772668988
NM_006950.3(SYN1):c.1310C>T (p.Pro437Leu) rs895517774
NM_006950.3(SYN1):c.1319G>A (p.Gly440Glu)
NM_006950.3(SYN1):c.1325T>C (p.Leu442Pro) rs375440874
NM_006950.3(SYN1):c.1363C>T (p.Pro455Ser) rs1371497364
NM_006950.3(SYN1):c.1369G>C (p.Ala457Pro) rs748323076
NM_006950.3(SYN1):c.1493C>T (p.Pro498Leu) rs1198466921
NM_006950.3(SYN1):c.1615G>A (p.Gly539Ser) rs794727076
NM_006950.3(SYN1):c.1667G>T (p.Arg556Leu)
NM_006950.3(SYN1):c.184T>G (p.Ser62Ala) rs1294224206
NM_006950.3(SYN1):c.1943C>T (p.Ala648Val) rs796053397
NM_006950.3(SYN1):c.213G>A (p.Ser71=)
NM_006950.3(SYN1):c.350T>C (p.Leu117Pro) rs1556861785
NM_006950.3(SYN1):c.360C>A (p.Asp120Glu) rs372165835
NM_006950.3(SYN1):c.371C>T (p.Thr124Ile) rs1339768860
NM_006950.3(SYN1):c.473A>G (p.Asn158Ser) rs765486966
NM_006950.3(SYN1):c.506G>A (p.Arg169Gln) rs775109362
NM_006950.3(SYN1):c.526C>T (p.Arg176Trp) rs769458536
NM_006950.3(SYN1):c.581G>A (p.Arg194His)
NM_006950.3(SYN1):c.883G>A (p.Val295Met) rs1085307749
NM_006950.3(SYN1):c.944G>A (p.Arg315His)

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