ClinVar Miner

List of variants studied for Bardet-Biedl syndrome 8 by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_144596.4(TTC8):c.489G>A (p.Thr163=)	rs119103286	0.00004
NM_144596.4(TTC8):c.265+5G>A	rs2094770219

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