ClinVar Miner

List of variants in gene PIDD1 studied for Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_145886.4(PIDD1):c.2042-8T>C rs200880915 0.00031
NM_145886.4(PIDD1):c.2042-2A>G rs199752248 0.00009
NM_145886.4(PIDD1):c.2044C>T (p.Arg682Cys) rs200290640 0.00007
NM_145886.4(PIDD1):c.1909C>T (p.Arg637Ter) rs578222814 0.00003
NM_145886.4(PIDD1):c.277C>T (p.Arg93Cys) rs573360451 0.00003
NM_145886.4(PIDD1):c.2584C>T (p.Arg862Trp) rs747620551 0.00002
NM_145886.4(PIDD1):c.1804_1805del (p.Gly602fs) rs2133768184 0.00001
NM_145886.4(PIDD1):c.2443C>T (p.Arg815Trp) rs758859772 0.00001
NM_145886.4(PIDD1):c.296-1G>A rs1479635413 0.00001
NM_145886.4(PIDD1):c.76G>A (p.Gly26Arg) rs1317011676 0.00001
NM_145886.4(PIDD1):c.1019G>A (p.Gly340Asp)
NM_145886.4(PIDD1):c.1302+1G>A
NM_145886.4(PIDD1):c.1303-10_1303-9insT rs2495315778
NM_145886.4(PIDD1):c.1819del (p.Ala607fs)
NM_145886.4(PIDD1):c.2017G>C (p.Glu673Gln) rs1427628817
NM_145886.4(PIDD1):c.202_203del (p.Arg68fs) rs1157844813
NM_145886.4(PIDD1):c.2116_2120del (p.Val706fs) rs2133759109
NM_145886.4(PIDD1):c.2275-1G>A rs2133753509
NM_145886.4(PIDD1):c.2393G>A (p.Arg798His)
NM_145886.4(PIDD1):c.2587C>T (p.Gln863Ter) rs1224174574
NM_145886.4(PIDD1):c.2605G>T (p.Val869Leu)
NM_145886.4(PIDD1):c.744C>G (p.His248Gln) rs1194551878
NM_145886.4(PIDD1):c.793C>T (p.Leu265Phe)

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