ClinVar Miner

List of variants reported as benign for Hereditary spastic paraplegia 3A

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_015915.5(ATL1):c.351G>A (p.Glu117=) rs1060197 0.79691
NM_015915.5(ATL1):c.1119+149T>G rs6572678 0.48687
NM_015915.5(ATL1):c.863-54A>G rs11157759 0.45951
NM_015915.5(ATL1):c.84A>G (p.Pro28=) rs35014209 0.18809
NM_015915.5(ATL1):c.630+7G>A rs3759588 0.17660
NM_015915.5(ATL1):c.705C>T (p.Phe235=) rs35044504 0.02457
NM_015915.5(ATL1):c.35-14G>A rs115722924 0.00906
NM_015915.5(ATL1):c.*621G>A rs1060183 0.00821
NM_015915.5(ATL1):c.693T>C (p.Gly231=) rs139720661 0.00790
NM_015915.5(ATL1):c.*305T>C rs2291674 0.00541
NM_015915.5(ATL1):c.1230G>A (p.Gly410=) rs148548325 0.00531
NM_015915.5(ATL1):c.*475G>A rs111734056 0.00281
NM_015915.5(ATL1):c.621G>A (p.Lys207=) rs35629585 0.00263
NM_015915.5(ATL1):c.*392C>A rs138209522 0.00214
NM_015915.5(ATL1):c.30T>C (p.Ser10=) rs146613929 0.00068
NM_015915.5(ATL1):c.*450A>G rs183817549 0.00065
NM_015915.5(ATL1):c.1200G>A (p.Lys400=) rs144792471 0.00060
NM_015915.5(ATL1):c.669C>T (p.Tyr223=) rs146975855 0.00059
NM_015915.5(ATL1):c.631-7T>A rs186528086 0.00056
NM_015915.5(ATL1):c.408T>C (p.Asp136=) rs76375909 0.00041
NM_015915.5(ATL1):c.1329T>C (p.His443=) rs146164574 0.00032
NM_015915.5(ATL1):c.991-6T>G rs192428744 0.00016
NM_015915.5(ATL1):c.90A>G (p.Lys30=) rs200452381 0.00012
NM_015915.5(ATL1):c.*212T>A rs372073012 0.00010
NM_015915.5(ATL1):c.306C>A (p.Asp102Glu) rs145204580 0.00010
NM_015915.5(ATL1):c.417+3A>G rs200310890 0.00009
NM_015915.5(ATL1):c.1635A>G (p.Pro545=) rs191729308 0.00006
NM_015915.5(ATL1):c.570C>G (p.Leu190=) rs202173614 0.00004
NM_015915.5(ATL1):c.1458C>T (p.Ile486=) rs200825678 0.00002
NM_015915.5(ATL1):c.921C>T (p.Pro307=) rs535790981 0.00001
NM_015915.5(ATL1):c.1552-24_1552-20del rs202061961
NM_015915.5(ATL1):c.1552-68_1552-67insATA rs3080581
NM_015915.5(ATL1):c.418-19G>T rs2934684
NM_015915.5(ATL1):c.573+24dup
NM_015915.5(ATL1):c.574-57TC[11] rs3834518
NM_015915.5(ATL1):c.574-5del
NM_015915.5(ATL1):c.991-13dup rs760671844
NM_015915.5(ATL1):c.991-3del rs753642042
NM_015915.5(ATL1):c.991-3dup rs753642042

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