ClinVar Miner

List of variants studied for Bardet-Biedl syndrome by Baylor Genetics

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro) rs121917778
NM_024685.4(BBS10):c.1091del (p.Asn364fs) rs727503818
NM_024685.4(BBS10):c.1436C>A (p.Ala479Glu) rs138434761
NM_024685.4(BBS10):c.1767C>A (p.Tyr589Ter) rs1565809409
NM_024685.4(BBS10):c.943C>T (p.Gln315Ter) rs1592492255

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