ClinVar Miner

List of variants studied for Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_022089.4(ATP13A2):c.*130C>T rs189334432 0.00217
NM_022089.4(ATP13A2):c.3405+9C>T rs374766933 0.00051
NM_022089.4(ATP13A2):c.2972G>A (p.Arg991Gln) rs145548316 0.00050
NM_022089.4(ATP13A2):c.1039+6C>T rs565724504 0.00035
NM_022089.4(ATP13A2):c.1542+3G>A rs747456787 0.00004
NM_022089.4(ATP13A2):c.2640C>T (p.Ala880=) rs567287489 0.00004
NM_022089.4(ATP13A2):c.2746G>A (p.Val916Met) rs768674400 0.00004

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