ClinVar Miner

List of variants reported as likely benign for Bardet-Biedl syndrome 11

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_012210.4(TRIM32):c.*692C>G rs116058338 0.00526
NM_012210.4(TRIM32):c.1222C>T (p.Arg408Cys) rs3747835 0.00113
NM_012210.4(TRIM32):c.770C>G (p.Thr257Arg) rs3747834 0.00017
NM_012210.4(TRIM32):c.1275T>C (p.Asp425=) rs150813870 0.00005
NM_012210.4(TRIM32):c.1609C>T (p.Leu537=) rs139275673 0.00004
NM_012210.4(TRIM32):c.1623G>A (p.Gln541=) rs201083322 0.00004
NM_012210.4(TRIM32):c.1728C>T (p.Arg576=) rs774825642 0.00002
NM_012210.4(TRIM32):c.474A>G (p.Glu158=) rs955416816 0.00001
NM_012210.4(TRIM32):c.216C>T (p.Ser72=) rs1860954629
NM_012210.4(TRIM32):c.378A>G (p.Ala126=) rs1860970214
NM_012210.4(TRIM32):c.939G>T (p.Ala313=) rs375442860

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