ClinVar Miner

List of variants in gene ERLIN2 reported as benign for Spastic paraplegia

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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_007175.8(ERLIN2):c.318C>T (p.Asn106=) rs16887018 0.02568
NM_007175.8(ERLIN2):c.816T>C (p.Asn272=) rs142722211 0.00412
NM_007175.8(ERLIN2):c.696G>A (p.Lys232=) rs138164407 0.00311
NM_007175.8(ERLIN2):c.557+8T>C rs181608326 0.00141
NM_007175.8(ERLIN2):c.123G>A (p.Leu41=) rs112575270 0.00103
NM_007175.8(ERLIN2):c.649+9G>A rs187766017 0.00096
NM_007175.8(ERLIN2):c.819+12G>A rs117553056 0.00068
NM_007175.8(ERLIN2):c.558-20C>T rs76777169 0.00055
NM_007175.8(ERLIN2):c.557+15C>T
NM_007175.8(ERLIN2):c.740-5C>G rs191003311
NM_007175.8(ERLIN2):c.820-6del
NM_007175.8(ERLIN2):c.820-6dup

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