ClinVar Miner

List of variants studied for X-linked syndromic intellectual disability by Division of Genomic Diagnostics,The Children's Hospital of Philadelphia

Included ClinVar conditions (165):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_003688.3:c.116_117delCA
NM_004429.4(EFNB1):c.271A>C (p.Thr91Pro) rs1057519032
NM_004429.4(EFNB1):c.407C>T (p.Ser136Leu) rs1057519033
NM_004429.4(EFNB1):c.466C>T (p.Arg156Cys) rs1057519034
NM_004429.4(EFNB1):c.561del (p.Asn187fs) rs1057519035
NM_004429.4(EFNB1):c.566T>C (p.Val189Ala) rs16989105
NM_005249.5(FOXG1):c.209_211AGC[5] (p.Gln73dup) rs398124201
NM_005249.5(FOXG1):c.219_221GCC[7] (p.Pro80dup) rs786200975
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204
NM_005249.5(FOXG1):c.554G>T (p.Ser185Ile) rs1057516138

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