ClinVar Miner

List of variants studied for Senior-Boichis syndrome by Molecular Biology Laboratory, Fundació Puigvert

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_153704.6(TMEM67):c.1057_1065+2del rs1813838655
NM_153704.6(TMEM67):c.517T>C (p.Cys173Arg) rs138783896
NM_153704.6(TMEM67):c.551G>A (p.Cys184Tyr) rs1813039419

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