ClinVar Miner

List of variants studied for Rienhoff syndrome by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_003239.5(TGFB3):c.1226G>A (p.Cys409Tyr) rs398122984
NM_003239.5(TGFB3):c.704del (p.Asn235fs) rs875989817
NM_003239.5(TGFB3):c.754+2T>C rs875989816
NM_003239.5(TGFB3):c.787G>C (p.Asp263His) rs796051886
NM_003239.5(TGFB3):c.898C>T (p.Arg300Trp) rs796051885
NM_003239.5(TGFB3):c.899G>A (p.Arg300Gln) rs587777617

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