ClinVar Miner

List of variants reported as likely pathogenic for Hereditary spastic paraplegia 7 by Fulgent Genetics, Fulgent Genetics

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) rs121918358 0.00014
NM_003119.4(SPG7):c.1447C>T (p.Gln483Ter) rs562890289 0.00004
NM_003119.4(SPG7):c.861+2dup rs771256761 0.00004
NM_003119.4(SPG7):c.1553-2_1553-1del rs772828460 0.00003
NM_003119.4(SPG7):c.1730G>A (p.Gly577Asp) rs1329063851 0.00001
NM_003119.4(SPG7):c.1972G>A (p.Ala658Thr) rs2058661391 0.00001
NM_003119.4(SPG7):c.376+1G>T rs746053679 0.00001
NM_003119.4(SPG7):c.759-2A>G rs770299071 0.00001
NM_003119.4(SPG7):c.1044_1045insA (p.Gly349fs)
NM_003119.4(SPG7):c.1048C>A (p.Pro350Thr) rs199789849
NM_003119.4(SPG7):c.1053del (p.Gly352fs) rs760818649
NM_003119.4(SPG7):c.1498C>T (p.Gln500Ter)
NM_003119.4(SPG7):c.2089C>T (p.Gln697Ter)
NM_003119.4(SPG7):c.2181+1G>T
NM_003119.4(SPG7):c.2181+5G>A
NM_003119.4(SPG7):c.2196del (p.Leu733fs)
NM_003119.4(SPG7):c.2246C>T (p.Pro749Leu)
NM_003119.4(SPG7):c.297del (p.Tyr100fs)
NM_003119.4(SPG7):c.2T>A (p.Met1Lys) rs1332265538
NM_003119.4(SPG7):c.335_336insTA (p.Glu112fs)
NM_003119.4(SPG7):c.3G>A (p.Met1Ile)
NM_003119.4(SPG7):c.987+2T>C

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