ClinVar Miner

List of variants studied for Adams-Oliver syndrome 5 by Baylor Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_017617.5(NOTCH1):c.1648T>G (p.Tyr550Asp) rs1843262478 0.00001
NM_017617.5(NOTCH1):c.4655C>T (p.Ala1552Val) rs748862853 0.00001
NM_017617.5(NOTCH1):c.2153A>G (p.Asn718Ser) rs1843232044
NM_017617.5(NOTCH1):c.3684del (p.Val1229fs)
NM_017617.5(NOTCH1):c.4294T>A (p.Phe1432Ile) rs1843069355
NM_017617.5(NOTCH1):c.5384+3G>C rs1843010026

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