ClinVar Miner

List of variants studied for X-linked syndromic intellectual disability by Centogene AG - the Rare Disease Company

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000489.6(ATRX):c.4070A>G (p.Lys1357Arg) rs1064796812 0.00002
NM_004606.5(TAF1):c.1417A>G (p.Asn473Asp) rs200177996 0.00002
NM_031407.7(HUWE1):c.8809G>A (p.Gly2937Arg) rs1370251359 0.00002
NM_000157.4(GBA1):c.695G>A (p.Gly232Glu) rs1376479747 0.00001
NM_002547.3(OPHN1):c.1226G>A (p.Arg409His) rs771624663 0.00001
NM_000489.6(ATRX):c.6653C>T (p.Pro2218Leu) rs2147941337
NM_001008222.3(ZDHHC9):c.286C>T (p.Arg96Trp) rs1131690786
NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter) rs786205208
NM_001008537.3(NEXMIF):c.791_792del (p.Phe264fs) rs2080116462
NM_001110792.2(MECP2):c.1440dup (p.Pro481fs) rs2065902096
NM_001330360.2(POLA1):c.478T>C (p.Ser160Pro) rs2148341883
NM_001353921.2(ARHGEF9):c.375C>A (p.Tyr125Ter) rs2052539418
NM_001367721.1(CASK):c.1465C>T (p.Arg489Trp) rs1114167352
NM_001367721.1(CASK):c.533-5T>G rs2147479605
NM_001367721.1(CASK):c.915+1G>A rs2147368049
NM_001394073.1(HS6ST2):c.1182G>C (p.Arg394Ser) rs1448659572
NM_002547.3(OPHN1):c.812A>G (p.Tyr271Cys) rs2077578419
NM_004606.5(TAF1):c.2119C>T (p.Arg707Trp) rs2148297957
NM_004606.5(TAF1):c.2806A>G (p.Thr936Ala) rs1014764751
NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr) rs863223696
NM_005120.3(MED12):c.5834C>G (p.Thr1945Ser) rs2147830593
NM_005120.3(MED12):c.728T>C (p.Met243Thr)
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_031206.7(LAS1L):c.1298C>T (p.Thr433Ile) rs2068997748
NM_031407.7(HUWE1):c.646-1G>A rs2149065229
NM_031407.7(HUWE1):c.9166A>C (p.Met3056Leu) rs2147292812

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