ClinVar Miner

List of variants studied for syndromic intellectual disability by Center for Human Genetics, Inc, Center for Human Genetics, Inc

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser) rs144952836 0.00206
NM_001184880.2(PCDH19):c.3280C>G (p.Leu1094Val) rs184545774 0.00151
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060 0.00123
NM_014795.4(ZEB2):c.2230A>G (p.Ile744Val) rs112005830 0.00087
NM_001032382.2(PQBP1):c.397C>T (p.Arg133Trp) rs201489630 0.00005
NM_001184880.2(PCDH19):c.1477G>A (p.Val493Met) rs773087045 0.00001
NM_000489.6(ATRX):c.5039T>C (p.Ile1680Thr) rs1557106482
NM_000489.6(ATRX):c.6794A>G (p.Glu2265Gly) rs1557042387
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs) rs758946412
NM_001184880.2(PCDH19):c.1815C>G (p.Tyr605Ter) rs1057521256
NM_004586.3(RPS6KA3):c.1308C>A (p.Cys436Ter) rs1160828151
NM_004586.3(RPS6KA3):c.1964del (p.Leu655fs) rs1555924704
NM_004586.3(RPS6KA3):c.2185C>T (p.Arg729Trp) rs1555924331
NM_004586.3(RPS6KA3):c.328C>T (p.Arg110Ter) rs1555943484
NM_004586.3(RPS6KA3):c.334C>T (p.Arg112Ter) rs1555943479
NM_004586.3(RPS6KA3):c.764G>A (p.Gly255Asp) rs1555939335
NM_004586.3(RPS6KA3):c.774+1G>C rs1555939331
NM_004586.3(RPS6KA3):c.894_902del (p.Arg300_Leu302del) rs1555933769
NM_014795.4(ZEB2):c.1162C>T (p.Leu388Phe) rs1553961748
NM_014795.4(ZEB2):c.1168del (p.Ile390fs) rs1553961747
NM_014795.4(ZEB2):c.2227del (p.Ser743fs) rs1553961580
NM_014795.4(ZEB2):c.247dup (p.Glu83fs) rs1553964145
NM_014795.4(ZEB2):c.3023T>G (p.Phe1008Cys) rs1553961332
NM_014795.4(ZEB2):c.3200C>A (p.Ser1067Ter) rs1423851170

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