ClinVar Miner

List of variants in gene MECP2 reported as uncertain significance for autism, susceptiblity to

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.*2956G>A rs267608358 0.00342
NM_001110792.2(MECP2):c.*2657G>A rs3027921 0.00301
NM_001110792.2(MECP2):c.*544G>A rs183349022 0.00200
NM_001110792.2(MECP2):c.*861T>G rs187614438 0.00196
NM_001110792.2(MECP2):c.*554G>A rs267608353 0.00083
NM_001110792.2(MECP2):c.*371G>C rs187851059 0.00062
NM_001110792.2(MECP2):c.*1368C>A rs267608355 0.00050
NM_001110792.2(MECP2):c.*5348T>C rs267608346 0.00025
NM_001110792.2(MECP2):c.*2556T>A rs267608356 0.00020
NM_001110792.2(MECP2):c.*3658C>T rs267608359 0.00010
NM_001110792.2(MECP2):c.653G>C (p.Gly218Ala) rs63485860 0.00009
NM_001110792.2(MECP2):c.*177G>C rs267608345 0.00005
NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln) rs145790362 0.00005
NM_001110792.2(MECP2):c.*767G>T rs267608354 0.00004
NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp) rs61750239 0.00004
NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser) rs140258520 0.00003
NM_001110792.2(MECP2):c.1049C>G (p.Thr350Ser) rs786204313 0.00002
NM_001110792.2(MECP2):c.413+18C>G rs267608461 0.00002
NM_001110792.2(MECP2):c.553C>G (p.Pro185Ala) rs61748427 0.00002
NM_001110792.2(MECP2):c.236G>T (p.Gly79Val) rs150900180 0.00001
NM_001110792.2(MECP2):c.515C>G (p.Thr172Ser) rs61748414 0.00001
NM_001110792.2(MECP2):c.*204G>A rs267608352
NM_001110792.2(MECP2):c.*2706G>A rs267608357
NM_001110792.2(MECP2):c.1163C>G (p.Pro388Arg) rs61752976
NM_001110792.2(MECP2):c.1448G>C (p.Arg483Thr) rs1057520310
NM_001110792.2(MECP2):c.413+6_413+9del rs267608459
NM_001110792.2(MECP2):c.564del (p.Lys189fs)
NM_001110792.2(MECP2):c.578C>T (p.Ala193Val) rs61749705
NM_001110792.2(MECP2):c.63-55G>A rs267608414
NM_001110792.2(MECP2):c.818C>G (p.Pro273Arg)
NM_001110792.2(MECP2):c.934G>A (p.Val312Ile) rs61751370
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001110792.2(MECP2):c.991G>A (p.Val331Met) rs1569548388

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