ClinVar Miner

List of variants in gene SMAD9 reported by Illumina Laboratory Services, Illumina

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Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001127217.3(SMAD9):c.*94_*95del rs763993290 0.00096
NM_001127217.3(SMAD9):c.1117G>A (p.Val373Ile) rs140504903 0.00019
NM_001127217.3(SMAD9):c.*2179_*2180del rs886050156
NM_001127217.3(SMAD9):c.*2179_*2181del rs886050155
NM_001127217.3(SMAD9):c.*2179del rs886050157
NM_001127217.3(SMAD9):c.*2201_*2202del rs10579121
NM_001127217.3(SMAD9):c.*2202del rs10579121
NM_001127217.3(SMAD9):c.*298_*301del rs886050169
NM_001127217.3(SMAD9):c.*3542TA[11] rs71084449
NM_001127217.3(SMAD9):c.*3542TA[8] rs71084449
NM_001127217.3(SMAD9):c.*3542TA[9] rs71084449
NM_001127217.3(SMAD9):c.*3558_*3563del rs757843262
NM_001127217.3(SMAD9):c.*3560_*3565del rs141967694
NM_001127217.3(SMAD9):c.*3562CA[5] rs201352307
NM_001127217.3(SMAD9):c.*3562CA[6] rs201352307
NM_001127217.3(SMAD9):c.*3590del rs886050148
NM_001127217.3(SMAD9):c.*448_*452del rs886050167
NM_001127217.3(SMAD9):c.*666_*667del rs886050165
NM_001127217.3(SMAD9):c.*667AG[1] rs762757980

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