ClinVar Miner

List of variants studied for Adams-Oliver syndrome by Mendelics

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_017617.5(NOTCH1):c.1042G>C (p.Ala348Pro) rs201236538
NM_017617.5(NOTCH1):c.1045A>C (p.Thr349Pro) rs200520088
NM_017617.5(NOTCH1):c.1756A>C (p.Thr586Pro) rs764854903
NM_017617.5(NOTCH1):c.1760T>C (p.Phe587Ser) rs771440130
NM_017617.5(NOTCH1):c.1762A>C (p.Thr588Pro) rs747384159
NM_017617.5(NOTCH1):c.1945C>A (p.Pro649Thr) rs780710009
NM_017617.5(NOTCH1):c.2080G>A (p.Glu694Lys) rs79782048
NM_017617.5(NOTCH1):c.3767C>T (p.Pro1256Leu) rs80340744
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val) rs183156491
NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His) rs76371972
NM_017617.5(NOTCH1):c.580A>C (p.Thr194Pro) rs770333242
NM_017617.5(NOTCH1):c.931A>C (p.Thr311Pro) rs202145498
NM_020754.4(ARHGAP31):c.820C>T (p.Pro274Ser) rs139600783
NM_020812.4(DOCK6):c.4469G>A (p.Arg1490Gln) rs200472954
NM_020812.4(DOCK6):c.749C>T (p.Pro250Leu) rs12978266

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