ClinVar Miner

List of variants in gene combination ASTN2, TRIM32 reported as benign for Bardet-Biedl syndrome

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_012210.4(TRIM32):c.1254G>A (p.Val418=) rs1661300 0.10569
NM_012210.4(TRIM32):c.6T>G (p.Ala2=) rs141352486 0.00086
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.370C>T (p.Arg124Trp) rs572052810 0.00002

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