ClinVar Miner

List of variants in gene SMAD6 reported as benign by Invitae

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_005585.5(SMAD6):c.139C>T (p.Pro47Ser) rs368960350 0.00546
NM_005585.5(SMAD6):c.711C>T (p.His237=) rs144415105 0.00542
NM_005585.5(SMAD6):c.1167C>T (p.Phe389=) rs12591946 0.00538
NM_005585.5(SMAD6):c.61G>A (p.Asp21Asn) rs188799901 0.00505
NM_005585.5(SMAD6):c.817+9G>C rs200726236 0.00239
NM_005585.5(SMAD6):c.1359C>T (p.Asp453=) rs368834798 0.00154
NM_005585.5(SMAD6):c.909G>A (p.Thr303=) rs139719094 0.00108
NM_005585.5(SMAD6):c.362G>A (p.Cys121Tyr) rs80232004 0.00101
NM_005585.5(SMAD6):c.447C>T (p.Ala149=) rs181184476 0.00045
NM_005585.5(SMAD6):c.405C>T (p.Ala135=) rs538097406 0.00009
NM_005585.5(SMAD6):c.120C>A (p.Gly40=) rs149612008
NM_005585.5(SMAD6):c.120C>T (p.Gly40=) rs149612008
NM_005585.5(SMAD6):c.952+13del rs761315842

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