ClinVar Miner

List of variants reported as benign for Compton-North congenital myopathy

Included ClinVar conditions (1):
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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001843.4(CNTN1):c.1416C>T (p.Asn472=) rs1056019 0.62528
NM_001843.4(CNTN1):c.1014T>C (p.Asn338=) rs935105 0.13920
NM_001843.4(CNTN1):c.2711-17A>G rs12367345 0.12247
NM_001843.4(CNTN1):c.1805-14C>A rs10784981 0.11616
NM_001843.4(CNTN1):c.1893T>C (p.His631=) rs2229929 0.03763
NM_001843.4(CNTN1):c.1956A>G (p.Ala652=) rs2229930 0.03222
NM_001843.4(CNTN1):c.401-9C>T rs57340925 0.02401
NM_001843.4(CNTN1):c.2324G>A (p.Ser775Asn) rs34326474 0.00980
NM_001843.4(CNTN1):c.2670A>T (p.Gly890=) rs34346038 0.00972
NM_001843.4(CNTN1):c.90T>C (p.His30=) rs61748365 0.00707
NM_001843.4(CNTN1):c.207C>T (p.Ala69=) rs7297132 0.00583
NM_001843.4(CNTN1):c.2493T>C (p.His831=) rs61754102 0.00396
NM_001843.4(CNTN1):c.986-16del rs113450310 0.00335
NM_001843.4(CNTN1):c.497-17G>T rs142799954 0.00276
NM_001843.4(CNTN1):c.1401T>C (p.Gly467=) rs61759480 0.00215
NM_001843.4(CNTN1):c.1911C>T (p.Tyr637=) rs61759481 0.00138
NM_001843.4(CNTN1):c.2598C>G (p.Ala866=) rs140462332 0.00120
NM_001843.4(CNTN1):c.2980+19A>T rs181426756 0.00112
NM_001843.4(CNTN1):c.1507+19G>T rs145594554 0.00099
NM_001843.4(CNTN1):c.873T>A (p.Ser291=) rs200022020 0.00047
NM_001843.4(CNTN1):c.2929C>T (p.Arg977Cys) rs150734960 0.00046
NM_001843.4(CNTN1):c.54T>C (p.Cys18=) rs149203149 0.00022
NM_001843.4(CNTN1):c.2785G>A (p.Val929Ile) rs148239965 0.00006
NM_001843.4(CNTN1):c.1563C>T (p.Asn521=) rs201595623
NM_001843.4(CNTN1):c.1805-9354del rs544761896
NM_001843.4(CNTN1):c.227+23dup rs2136857686
NM_001843.4(CNTN1):c.228-8del
NM_001843.4(CNTN1):c.401-14del rs148387796

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