ClinVar Miner

List of variants reported as likely pathogenic for Pfeiffer syndrome by Invitae

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_023110.2(FGFR1):c.232C>T (p.Arg78Cys) rs1554570706
NM_023110.2(FGFR1):c.448+1G>A

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