ClinVar Miner

List of variants in gene RTN2 reported as likely benign for Spastic paraplegia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_005619.5(RTN2):c.1312C>T (p.Arg438Cys) rs148270789 0.00049
NM_005619.5(RTN2):c.1607C>T (p.Ala536Val) rs140567426 0.00025
NM_005619.5(RTN2):c.981G>A (p.Pro327=) rs368114241 0.00012
NM_005619.5(RTN2):c.1021A>G (p.Met341Val) rs374003662 0.00011
NM_005619.5(RTN2):c.560-7G>A rs370068938 0.00011
NM_005619.5(RTN2):c.1068G>A (p.Thr356=) rs370997046 0.00006
NM_005619.5(RTN2):c.327G>A (p.Leu109=) rs144198343 0.00006
NM_005619.5(RTN2):c.79G>A (p.Gly27Arg) rs561968273 0.00005
NM_005619.5(RTN2):c.1476C>G (p.Pro492=) rs748824542 0.00004
NM_005619.5(RTN2):c.986G>A (p.Ser329Asn) rs145653668 0.00004
NM_005619.5(RTN2):c.1037C>T (p.Ala346Val) rs1176639498 0.00003
NM_005619.5(RTN2):c.1209C>T (p.Ala403=) rs140427245 0.00003
NM_005619.5(RTN2):c.1239C>T (p.Phe413=) rs917119159 0.00003
NM_005619.5(RTN2):c.1325C>T (p.Ala442Val) rs201863499 0.00003
NM_005619.5(RTN2):c.1140C>T (p.Ala380=) rs765432276 0.00001
NM_005619.5(RTN2):c.1305C>T (p.Ile435=) rs757343656 0.00001
NM_005619.5(RTN2):c.1332G>A (p.Thr444=) rs149504512 0.00001
NM_005619.5(RTN2):c.1451-7C>T rs1418970218 0.00001
NM_005619.5(RTN2):c.1497+7G>T rs372988926 0.00001
NM_005619.5(RTN2):c.1521G>A (p.Gly507=) rs750450680 0.00001
NM_005619.5(RTN2):c.153C>T (p.Thr51=) rs778128536 0.00001
NM_005619.5(RTN2):c.79+6T>A rs749104931 0.00001
NM_005619.5(RTN2):c.1034-13C>G
NM_005619.5(RTN2):c.108G>A (p.Glu36=)
NM_005619.5(RTN2):c.1122T>C (p.Phe374=)
NM_005619.5(RTN2):c.1125C>T (p.Ser375=)
NM_005619.5(RTN2):c.1134C>T (p.Ser378=)
NM_005619.5(RTN2):c.1167C>T (p.Cys389=)
NM_005619.5(RTN2):c.1217G>C (p.Arg406Pro) rs369158895
NM_005619.5(RTN2):c.1230C>T (p.Ala410=)
NM_005619.5(RTN2):c.1242-4G>T rs761145953
NM_005619.5(RTN2):c.1242G>A (p.Gln414=)
NM_005619.5(RTN2):c.1251G>A (p.Leu417=)
NM_005619.5(RTN2):c.1273C>T (p.Arg425Trp)
NM_005619.5(RTN2):c.1284G>A (p.Thr428=)
NM_005619.5(RTN2):c.1323G>A (p.Ser441=)
NM_005619.5(RTN2):c.1341G>C (p.Arg447=)
NM_005619.5(RTN2):c.135G>A (p.Glu45=)
NM_005619.5(RTN2):c.1381-5C>T
NM_005619.5(RTN2):c.1451-20C>T
NM_005619.5(RTN2):c.1462C>T (p.Leu488=) rs1968076779
NM_005619.5(RTN2):c.1493A>G (p.His498Arg)
NM_005619.5(RTN2):c.1506C>T (p.Ile502=)
NM_005619.5(RTN2):c.1572C>T (p.Ile524=) rs1599903496
NM_005619.5(RTN2):c.1605C>T (p.Ala535=) rs2122199510
NM_005619.5(RTN2):c.277G>A (p.Val93Ile)
NM_005619.5(RTN2):c.35-4G>A
NM_005619.5(RTN2):c.388G>A (p.Ala130Thr) rs143394159
NM_005619.5(RTN2):c.555G>A (p.Gly185=)
NM_005619.5(RTN2):c.560-17T>A
NM_005619.5(RTN2):c.564G>A (p.Leu188=)
NM_005619.5(RTN2):c.597G>A (p.Ser199=) rs764702354
NM_005619.5(RTN2):c.600C>G (p.Pro200=)
NM_005619.5(RTN2):c.609G>A (p.Leu203=)
NM_005619.5(RTN2):c.668G>T (p.Arg223Leu) rs1284501805
NM_005619.5(RTN2):c.6G>A (p.Gly2=)
NM_005619.5(RTN2):c.814+9C>T
NM_005619.5(RTN2):c.815-20A>G
NM_005619.5(RTN2):c.840A>C (p.Thr280=)
NM_005619.5(RTN2):c.84G>A (p.Gly28=)
NM_005619.5(RTN2):c.954G>A (p.Arg318=)
NM_005619.5(RTN2):c.987C>T (p.Ser329=)

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