ClinVar Miner

List of variants reported as likely benign for familial adenomatous polyposis 2 by Mendelics

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001048174.2(MUTYH):c.1103-27C>T rs3219490 0.00300
NM_001048174.2(MUTYH):c.1501C>A (p.Leu501Met) rs3219496 0.00154
NM_001128425.2(MUTYH):c.36+214G>C rs568514678 0.00096
NM_001048174.2(MUTYH):c.914-9C>T rs3219488 0.00045
NM_001048174.2(MUTYH):c.1102+9A>T rs587780742 0.00018
NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val) rs35352891 0.00011
NM_001048174.2(MUTYH):c.-6-7G>A rs780029247 0.00010
NM_001128425.2(MUTYH):c.36+179G>T rs1418696430 0.00003
NM_001128425.2(MUTYH):c.161G>A (p.Cys54Tyr) rs560905645 0.00002
NM_001048174.2(MUTYH):c.1102+42_1102+43del rs775033999 0.00001
NM_001048174.2(MUTYH):c.1227G>A (p.Arg409=) rs199575659 0.00001
NM_001048174.2(MUTYH):c.1533T>C (p.Thr511=) rs756708148 0.00001
NM_001048174.2(MUTYH):c.887C>T (p.Ser296Leu) rs558173961 0.00001
NM_001048174.2(MUTYH):c.903G>C (p.Val301=) rs749048388 0.00001
NM_025077.4(TOE1):c.52+130A>G rs1215187269 0.00001
NM_025077.4(TOE1):c.52+97G>A rs992028783 0.00001
NM_001048174.2(MUTYH):c.607-18_607-17del rs765157527
NM_025077.4(TOE1):c.52+76A>G rs547694371

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