ClinVar Miner

List of variants in gene CHD1 studied for Pilarowski-Bjornsson syndrome

Included ClinVar conditions (1):
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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_001270.4(CHD1):c.1371A>G (p.Leu457=) rs116648225 0.00391
NM_001270.4(CHD1):c.4033A>G (p.Ile1345Val) rs139215644 0.00093
NM_001270.4(CHD1):c.271C>T (p.Pro91Ser) rs747828889 0.00002
NM_001270.4(CHD1):c.1379G>A (p.Arg460Lys) rs1554078856 0.00001
NM_001270.4(CHD1):c.4427+17T>G rs1309113022 0.00001
NM_001270.4(CHD1):c.1082G>T (p.Arg361Ile)
NM_001270.4(CHD1):c.1165C>A (p.Gln389Lys)
NM_001270.4(CHD1):c.1177C>T (p.Arg393Cys)
NM_001270.4(CHD1):c.1493A>G (p.Lys498Arg)
NM_001270.4(CHD1):c.1807C>G (p.Leu603Val)
NM_001270.4(CHD1):c.1853G>A (p.Arg618Gln) rs1554078349
NM_001270.4(CHD1):c.1978A>G (p.Ile660Val)
NM_001270.4(CHD1):c.1992G>T (p.Lys664Asn)
NM_001270.4(CHD1):c.2042A>G (p.Tyr681Cys)
NM_001270.4(CHD1):c.2336C>T (p.Ala779Val)
NM_001270.4(CHD1):c.2353C>T (p.Arg785Cys) rs781480692
NM_001270.4(CHD1):c.2434C>G (p.Gln812Glu)
NM_001270.4(CHD1):c.2569-11A>G
NM_001270.4(CHD1):c.2606T>C (p.Leu869Pro)
NM_001270.4(CHD1):c.2848A>G (p.Thr950Ala) rs1750226720
NM_001270.4(CHD1):c.2964+3A>G
NM_001270.4(CHD1):c.2979T>A (p.Asp993Glu)
NM_001270.4(CHD1):c.3133G>A (p.Glu1045Lys)
NM_001270.4(CHD1):c.3335G>T (p.Arg1112Leu) rs1749765274
NM_001270.4(CHD1):c.3337G>A (p.Gly1113Arg) rs1749765020
NM_001270.4(CHD1):c.3547A>G (p.Ser1183Gly)
NM_001270.4(CHD1):c.3571+5C>T rs2112334290
NM_001270.4(CHD1):c.362G>T (p.Gly121Val)
NM_001270.4(CHD1):c.3941G>T (p.Ser1314Ile)
NM_001270.4(CHD1):c.3998A>G (p.Lys1333Arg) rs1749202438
NM_001270.4(CHD1):c.421A>G (p.Arg141Gly) rs1064795875
NM_001270.4(CHD1):c.4551G>T (p.Leu1517Phe) rs1748258742
NM_001270.4(CHD1):c.4552A>C (p.Asn1518His)
NM_001270.4(CHD1):c.458G>A (p.Gly153Glu)
NM_001270.4(CHD1):c.461C>T (p.Ser154Leu)
NM_001270.4(CHD1):c.4646A>C (p.His1549Pro)
NM_001270.4(CHD1):c.470C>G (p.Pro157Arg) rs1580471120
NM_001270.4(CHD1):c.4712C>G (p.Ser1571Cys)
NM_001270.4(CHD1):c.4753C>T (p.His1585Tyr)
NM_001270.4(CHD1):c.4760A>G (p.Asp1587Gly)
NM_001270.4(CHD1):c.4792T>C (p.Tyr1598His) rs1748060837
NM_001270.4(CHD1):c.4850C>G (p.Ser1617Ter) rs2112436440
NM_001270.4(CHD1):c.4886C>G (p.Ser1629Cys)
NM_001270.4(CHD1):c.4894C>G (p.Arg1632Gly) rs374564623
NM_001270.4(CHD1):c.4976G>C (p.Arg1659Thr) rs2112435759
NM_001270.4(CHD1):c.5123G>A (p.Arg1708Gln) rs1293161341
NM_001270.4(CHD1):c.607A>C (p.Lys203Gln)
NM_001270.4(CHD1):c.643dup (p.Ser215fs)
NM_001270.4(CHD1):c.656A>T (p.Asp219Val)
NM_001270.4(CHD1):c.662A>T (p.Asp221Val) rs1751666878
NM_001270.4(CHD1):c.679A>G (p.Asn227Asp)
NM_001270.4(CHD1):c.735_738delinsGGAT (p.Asp245_Glu246delinsGluAsp) rs2112522658
NM_001270.4(CHD1):c.788T>C (p.Val263Ala)
NM_001270.4(CHD1):c.966G>A (p.Trp322Ter)

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