ClinVar Miner

List of variants studied for Kufor-Rakeb syndrome by OMIM

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs) rs765632065 0.00007
NM_022089.4(ATP13A2):c.2629G>A (p.Gly877Arg) rs144701072 0.00004
NM_022089.4(ATP13A2):c.1101_1102dup (p.Thr368fs) rs762033589
NM_022089.4(ATP13A2):c.1306+5G>A rs786205056
NM_022089.4(ATP13A2):c.1510G>C (p.Gly504Arg) rs121918227
NM_022089.4(ATP13A2):c.1633_1654dup (p.Leu552fs) rs2100817106
NM_022089.4(ATP13A2):c.2552_2553del (p.Phe851fs) rs587776890
NM_022089.4(ATP13A2):c.2561T>G (p.Met854Arg) rs587777053

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