ClinVar Miner

List of variants in gene DONSON reported by Ambry Genetics

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Gene type:
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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_017613.4(DONSON):c.82A>C (p.Ser28Arg) rs768071555 0.00090
NM_017613.4(DONSON):c.547G>T (p.Ala183Ser) rs147415181 0.00036
NM_017613.4(DONSON):c.1340A>G (p.Gln447Arg) rs138335198 0.00020
NM_017613.4(DONSON):c.1154G>A (p.Arg385His) rs750390868 0.00007
NM_017613.4(DONSON):c.418T>C (p.Phe140Leu) rs371685464 0.00004
NM_017613.4(DONSON):c.1254dup (p.Lys419Ter) rs765112107 0.00002
NM_017613.4(DONSON):c.1658G>A (p.Arg553Gln) rs748637250 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.101C>T (p.Ser34Phe)
NM_017613.4(DONSON):c.104C>G (p.Pro35Arg)
NM_017613.4(DONSON):c.1144A>G (p.Ile382Val)
NM_017613.4(DONSON):c.1286C>A (p.Ala429Glu)
NM_017613.4(DONSON):c.1456A>G (p.Met486Val)
NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr) rs146664036
NM_017613.4(DONSON):c.1562T>A (p.Met521Lys)
NM_017613.4(DONSON):c.1670T>G (p.Leu557Arg)
NM_017613.4(DONSON):c.481A>C (p.Thr161Pro)
NM_017613.4(DONSON):c.485G>A (p.Arg162Gln)
NM_017613.4(DONSON):c.659A>G (p.Tyr220Cys)
NM_017613.4(DONSON):c.664C>G (p.Leu222Val)
NM_017613.4(DONSON):c.717A>C (p.Arg239Ser)
NM_017613.4(DONSON):c.724G>A (p.Ala242Thr)
NM_017613.4(DONSON):c.7C>T (p.Leu3Phe)
NM_017613.4(DONSON):c.847G>A (p.Val283Ile)
NM_017613.4(DONSON):c.85C>T (p.Arg29Cys)
NM_017613.4(DONSON):c.916del (p.Leu306fs)
NM_017613.4(DONSON):c.956G>C (p.Arg319Thr)

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