ClinVar Miner

List of variants studied for X-linked intellectual disability-psychosis-macroorchidism syndrome by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NC_000023.10:g.(?_153287264)_(153363188_?)dup
NM_001110792.1(MECP2):c.41_57dup (p.Arg20Glufs) rs1557150846
NM_001110792.1(MECP2):c.885C>G (p.Ala295=) rs61750253
NM_001110792.1(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_004992.3(MECP2):c.108_111delAGAA (p.Glu37Argfs) rs267608426
NM_004992.3(MECP2):c.1154C>A (p.Pro385His) rs111302745
NM_004992.3(MECP2):c.1206C>T (p.Pro402=) rs63586860
NM_004992.3(MECP2):c.1214C>T (p.Pro405Leu) rs61753016
NM_004992.3(MECP2):c.1255C>T (p.Pro419Ser) rs140258520
NM_004992.3(MECP2):c.420G>A (p.Ala140=) rs782082759
NM_004992.3(MECP2):c.450G>C (p.Leu150=) rs1060504124
NM_004992.3(MECP2):c.561C>A (p.Gly187=) rs200074866
NM_004992.3(MECP2):c.608C>T (p.Thr203Met) rs61749720
NM_004992.3(MECP2):c.617G>C (p.Gly206Ala) rs63485860
NM_004992.3(MECP2):c.806delG (p.Gly269Alafs) rs61750241
NM_004992.3(MECP2):c.810A>G (p.Arg270=) rs782743949
NM_004992.3(MECP2):c.840C>T (p.Ala280=) rs61750251
NM_004992.3(MECP2):c.843C>T (p.Ala281=) rs61750252

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