ClinVar Miner

List of variants reported as likely benign for Familial adenomatous polyposis 3

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_002528.7(NTHL1):c.116-10C>G rs3211970 0.00339
NM_002528.7(NTHL1):c.503T>C (p.Ile168Thr) rs1805378 0.00155
NM_002528.7(NTHL1):c.791+10T>G rs564181825 0.00019
NM_002528.7(NTHL1):c.526-11_526-10del rs764393572 0.00011
NM_002528.7(NTHL1):c.576C>T (p.Tyr192=) rs541989951 0.00009
NM_002528.7(NTHL1):c.831C>T (p.Phe277=) rs376251044 0.00006
NM_002528.7(NTHL1):c.222C>G (p.Leu74=) rs778667153 0.00004
NM_002528.7(NTHL1):c.9C>T (p.Ala3=) rs765855021 0.00003
NM_002528.7(NTHL1):c.174G>A (p.Val58=) rs769199407 0.00001
NM_002528.7(NTHL1):c.417G>A (p.Thr139=) rs1044127089 0.00001
NM_002528.7(NTHL1):c.819C>T (p.Leu273=) rs769544798 0.00001
NM_002528.7(NTHL1):c.115+9G>A rs1393884097
NM_002528.7(NTHL1):c.116-10C>T rs3211970
NM_002528.7(NTHL1):c.354+8G>A rs2150944676
NM_002528.7(NTHL1):c.373C>T (p.Leu125=) rs1397440217
NM_002528.7(NTHL1):c.525+3G>A rs2084315929
NM_002528.7(NTHL1):c.777G>A (p.Glu259=) rs1596216334

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