ClinVar Miner

List of variants in gene ARSI reported as benign for Spastic paraplegia

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001012301.4(ARSI):c.669C>T (p.His223=) rs77943970 0.03854
NM_001012301.4(ARSI):c.801G>A (p.Val267=) rs114744538 0.01995
NM_001012301.4(ARSI):c.91G>T (p.Gly31Trp) rs77196282 0.01426
NM_001012301.4(ARSI):c.1383C>T (p.Ala461=) rs112583032 0.01030
NM_001012301.4(ARSI):c.87C>T (p.Ala29=) rs200012526 0.00369
NM_001012301.4(ARSI):c.403C>T (p.Leu135=) rs147408633 0.00327
NM_001012301.4(ARSI):c.684C>T (p.Pro228=) rs112896077 0.00288
NM_001012301.4(ARSI):c.894T>C (p.Asn298=) rs77878118 0.00272
NM_001012301.4(ARSI):c.1209C>G (p.Ser403=) rs151025550 0.00171
NM_001012301.4(ARSI):c.1242C>T (p.Ala414=) rs148519839 0.00155
NM_001012301.4(ARSI):c.378G>A (p.Leu126=) rs113307962 0.00111
NM_001012301.4(ARSI):c.1239C>T (p.Thr413=) rs73268774 0.00065
NM_001012301.4(ARSI):c.1095C>T (p.Ala365=) rs76556550 0.00014
NM_001012301.4(ARSI):c.921C>T (p.Ser307=) rs200155745 0.00004
NM_001012301.4(ARSI):c.1007G>A (p.Arg336Gln)
NM_001012301.4(ARSI):c.636T>C (p.Tyr212=) rs6579784

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