ClinVar Miner

List of variants studied for Bardet-Biedl syndrome 5

Included ClinVar conditions (1):
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Total variants: 13
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BBS5, 8-BP DEL/7-BP INS, NT263
NM_152384.3(BBS5):c.143-1G>C rs1054138918
NM_152384.3(BBS5):c.177G>A (p.Trp59Ter) rs767221160
NM_152384.3(BBS5):c.209-2A>G rs1477098739
NM_152384.3(BBS5):c.214G>A (p.Gly72Ser) rs121908581
NM_152384.3(BBS5):c.258+2T>C rs1559122157
NM_152384.3(BBS5):c.2T>A (p.Met1Lys)
NM_152384.3(BBS5):c.386+1G>T rs1559122277
NM_152384.3(BBS5):c.425T>A (p.Leu142Ter)
NM_152384.3(BBS5):c.522+3A>G rs587777828
NM_152384.3(BBS5):c.547A>G (p.Thr183Ala) rs121908582
NM_152384.3(BBS5):c.751A>G (p.Asn251Asp) rs143113298
NM_152384.3(BBS5):c.966dup (p.Ala323fs) rs1553529427

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