ClinVar Miner

List of variants studied for Norman-Roberts syndrome by Revvity Omics, Revvity

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_005045.4(RELN):c.139G>A (p.Glu47Lys) rs139648092 0.00047
NM_005045.4(RELN):c.5711C>T (p.Thr1904Met) rs114190729 0.00025
NM_005045.4(RELN):c.8863C>T (p.Arg2955Cys) rs114501042 0.00018
NM_005045.4(RELN):c.7634C>T (p.Ala2545Val) rs116634494 0.00014
NM_005045.4(RELN):c.8005G>A (p.Val2669Ile) rs375985673 0.00009
NM_005045.4(RELN):c.6875G>A (p.Arg2292His) rs565382144 0.00004
NM_005045.4(RELN):c.5005A>C (p.Ser1669Arg) rs1481028795 0.00002
NM_005045.4(RELN):c.7943T>C (p.Leu2648Pro) rs566580675 0.00002
NM_005045.4(RELN):c.10131C>G (p.His3377Gln) rs767876947 0.00001
NM_005045.4(RELN):c.4907A>G (p.Asp1636Gly) rs587780439 0.00001
NM_005045.4(RELN):c.7451T>C (p.Met2484Thr) rs1402071263 0.00001
NM_005045.4(RELN):c.8490-3T>C rs373564931 0.00001
NM_005045.4(RELN):c.1505G>C (p.Gly502Ala) rs1382483563
NM_005045.4(RELN):c.265del (p.Leu88_Val89insTer) rs2116670615
NM_005045.4(RELN):c.2895A>T (p.Glu965Asp)
NM_005045.4(RELN):c.4855A>G (p.Asn1619Asp) rs1830750187
NM_005045.4(RELN):c.4864C>T (p.Arg1622Ter) rs1451240853
NM_005045.4(RELN):c.5069A>G (p.Asn1690Ser)
NM_005045.4(RELN):c.65G>A (p.Arg22Lys) rs139532757
NM_005045.4(RELN):c.7299C>A (p.Asp2433Glu)
NM_005045.4(RELN):c.8119+3A>G
NM_005045.4(RELN):c.887A>T (p.Gln296Leu)
NM_005045.4(RELN):c.925ATC[1] (p.Ile310del) rs1554404031

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