ClinVar Miner

List of variants reported as likely pathogenic for autosomal recessive spastic paraplegia type 78

Included ClinVar conditions (3):
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_022089.4(ATP13A2):c.477+2T>G rs758014228 0.00009
NM_022089.4(ATP13A2):c.1657C>T (p.Arg553Ter) rs1264582344 0.00001
NM_022089.4(ATP13A2):c.1845+1G>A rs2076970587 0.00001
NM_022089.4(ATP13A2):c.2529+1G>A rs776448394 0.00001
NM_022089.4(ATP13A2):c.1353_1353+1del
NM_022089.4(ATP13A2):c.1510G>C (p.Gly504Arg) rs121918227
NM_022089.4(ATP13A2):c.1837C>T (p.Gln613Ter) rs2100785804
NM_022089.4(ATP13A2):c.1846-2A>G rs2100783138
NM_022089.4(ATP13A2):c.2006-1G>C
NM_022089.4(ATP13A2):c.2127-2_2127-1delinsCC
NM_022089.4(ATP13A2):c.2135_2136del (p.Val712fs) rs2076942520
NM_022089.4(ATP13A2):c.2413-1G>C
NM_022089.4(ATP13A2):c.2763-4_2763-1del
NM_022089.4(ATP13A2):c.3083+2T>C rs771581490
NM_022089.4(ATP13A2):c.3151_3152del (p.Phe1051fs) rs2076751251
NM_022089.4(ATP13A2):c.3418C>T (p.Gln1140Ter) rs1057519289
NM_022089.4(ATP13A2):c.348-9_351del rs749798211
NM_022089.4(ATP13A2):c.557+1G>T
NM_022089.4(ATP13A2):c.558-1G>T rs2077392348

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