ClinVar Miner

List of variants reported as likely pathogenic for X-linked syndromic intellectual disability by Institute of Human Genetics,Klinikum rechts der Isar

Included ClinVar conditions (212):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_000284.4(PDHA1):c.455C>T (p.Ser152Leu) rs1555933954
NM_000284.4(PDHA1):c.536T>G (p.Leu179Arg) rs1555934165
NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg) rs1272572107
NM_001081550.2(THOC2):c.149A>C (p.Tyr50Ser) rs1603326578
NM_001110792.2(MECP2):c.1A>G (p.Met1Val) rs587783132
NM_001323289.2(CDKL5):c.554+1G>A rs1555950083
NM_001330360.2(POLA1):c.1207G>A (p.Asp403Asn) rs774419889
NM_001415.4(EIF2S3):c.431C>T (p.Thr144Ile) rs751468976
NM_002764.4(PRPS1):c.433T>G (p.Leu145Val) rs768454424
NM_004493.3(HSD17B10):c.517G>C (p.Gly173Arg) rs1602426573
NM_005249.5(FOXG1):c.1222A>T (p.Asn408Tyr) rs1594384249
NM_016589.4(TIMMDC1):c.524C>T (p.Thr175Met) rs370482859
NM_019597.5(HNRNPH2):c.85C>T (p.Arg29Cys) rs1555988314
NM_031407.7(HUWE1):c.6098-20_6109del rs1602738933
NM_078629.4(MSL3):c.1466+1G>A rs1601774648

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