ClinVar Miner

List of variants in gene DONSON reported as pathogenic for not provided

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_017613.4(DONSON):c.1047-9A>G rs779149681 0.00004
NM_017613.4(DONSON):c.1254dup (p.Lys419Ter) rs765112107 0.00002
NM_017613.4(DONSON):c.877C>T (p.Arg293Ter) rs542296982 0.00002
NM_017613.4(DONSON):c.1282C>T (p.Gln428Ter) rs993687029 0.00001
NM_017613.4(DONSON):c.1324C>T (p.Arg442Ter) rs753648048 0.00001
NM_017613.4(DONSON):c.1433C>T (p.Pro478Leu) rs372126686 0.00001
NM_017613.4(DONSON):c.1142dup (p.Ile382fs)
NM_017613.4(DONSON):c.1253_1254del (p.Asn417_Ser418insTer)
NM_017613.4(DONSON):c.1313_1314del (p.Pro438fs)
NM_017613.4(DONSON):c.1324del (p.Arg442fs)
NM_017613.4(DONSON):c.1367_1368del (p.Val456fs) rs2145899336
NM_017613.4(DONSON):c.1375_1376del (p.Gln459fs)
NM_017613.4(DONSON):c.1411del (p.Glu471fs)
NM_017613.4(DONSON):c.1474_1475del (p.Gln492fs)
NM_017613.4(DONSON):c.1487dup (p.Ser497fs)
NM_017613.4(DONSON):c.1490_1491del (p.Ser497fs)
NM_017613.4(DONSON):c.1563+1del rs2086478717
NM_017613.4(DONSON):c.41dup (p.Pro15fs) rs1354181982
NM_017613.4(DONSON):c.484C>T (p.Arg162Ter)
NM_017613.4(DONSON):c.48del (p.Glu17fs) rs2145910302
NM_017613.4(DONSON):c.744G>A (p.Trp248Ter)
NM_017613.4(DONSON):c.995_996insT (p.Glu332fs)

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