ClinVar Miner

List of variants studied for X-linked syndromic intellectual disability by Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP
NM_000252.2(MTM1):c.1053+1G>A
NM_000252.2(MTM1):c.1089dupA (p.Val364Serfs) rs587783752
NM_000252.2(MTM1):c.1225A>G (p.Lys409Glu)
NM_000252.2(MTM1):c.1261-10A>G rs397518445
NM_000252.2(MTM1):c.1261C>T (p.Arg421Ter) rs587783771
NM_000252.2(MTM1):c.1381C>T (p.Gln461Ter)
NM_000252.2(MTM1):c.205C>T (p.Arg69Cys) rs132630304
NM_000252.2(MTM1):c.342_342+4delAGTAA rs797045717
NM_000252.2(MTM1):c.593A>C (p.Tyr198Ser)
NM_000252.2(MTM1):c.664C>T (p.Arg222Ter) rs587783847
NM_000252.2(MTM1):c.676C>A (p.Pro226Thr) rs587783848
NM_000252.2(MTM1):c.757C>T (p.Arg253Ter) rs587783854
NM_000252.2(MTM1):c.969dup (p.Val324Serfs) rs587783865
NM_001042537.1:c.576_577delAT
NM_001184880.1(PCDH19):c.489_490delGCinsAT (p.Gln164Ter) rs1555985639
NM_004992.3(MECP2):c.1098C>T (p.His366=) rs1557135898
NM_004992.3(MECP2):c.1189G>A (p.Glu397Lys) rs56268439
NM_004992.3(MECP2):c.1308_1309delTC (p.Gln437Alafs) rs61753972
NM_004992.3(MECP2):c.378-17delT rs61753982
NM_004992.3(MECP2):c.397C>T (p.Arg133Cys) rs28934904
NM_004992.3(MECP2):c.455C>G (p.Pro152Arg) rs61748404
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) rs28934906
NM_004992.3(MECP2):c.502C>T (p.Arg168Ter) rs61748421
NM_004992.3(MECP2):c.602C>T (p.Ala201Val) rs61748381
NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) rs61749721
NM_004992.3(MECP2):c.806delG (p.Gly269Alafs) rs61750241
NM_004992.3(MECP2):c.916C>T (p.Arg306Cys) rs28935468

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