ClinVar Miner

List of variants in gene TAPBPL, VAMP1 studied for Spastic paraplegia

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Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_014231.5(VAMP1):c.252C>A (p.Ala84=) rs2072375 0.27430
NM_014231.5(VAMP1):c.289-13C>T rs137903255 0.00226
NM_014231.5(VAMP1):c.2+17G>A rs367734911 0.00073
NM_014231.5(VAMP1):c.114G>A (p.Gln38=) rs145088983 0.00021
NM_014231.5(VAMP1):c.19C>T (p.Pro7Ser) rs773396496 0.00007
NM_014231.5(VAMP1):c.288+15C>T rs147665374 0.00006
NM_014231.5(VAMP1):c.340+9C>T rs771796946 0.00006
NM_014231.5(VAMP1):c.2+12C>T rs200404061 0.00005
NM_014231.5(VAMP1):c.335T>C (p.Ile112Thr) rs776075796 0.00005
NM_014231.5(VAMP1):c.299T>C (p.Met100Thr) rs901075787 0.00003
NM_014231.5(VAMP1):c.34A>T (p.Thr12Ser) rs758185488 0.00003
NM_014231.5(VAMP1):c.26C>G (p.Ala9Gly) rs375340840 0.00002
NM_014231.5(VAMP1):c.3-6C>T rs749846681 0.00002
NM_014231.5(VAMP1):c.307G>A (p.Ala103Thr) rs772852206 0.00002
NM_014231.5(VAMP1):c.111C>T (p.Thr37=) rs774269433 0.00001
NM_014231.5(VAMP1):c.186G>A (p.Leu62=) rs985285542 0.00001
NM_014231.5(VAMP1):c.2+15G>A rs1332418739 0.00001
NM_014231.5(VAMP1):c.2+3G>A rs982874261 0.00001
NM_014231.5(VAMP1):c.2+8G>A rs1429205170 0.00001
NM_014231.5(VAMP1):c.258A>G (p.Leu86=) rs765459461 0.00001
NM_014231.5(VAMP1):c.288+16C>T rs1336111436 0.00001
NM_014231.5(VAMP1):c.315T>A (p.Cys105Ter) rs1237437677 0.00001
NM_014231.5(VAMP1):c.325G>A (p.Val109Met) rs147397648 0.00001
NM_014231.5(VAMP1):c.340+10G>A rs746020440 0.00001
NM_014231.5(VAMP1):c.341-19T>G rs1452355892 0.00001
NM_014231.5(VAMP1):c.353C>T (p.Thr118Ile) rs1232673532 0.00001
NM_014231.5(VAMP1):c.98G>A (p.Arg33Gln) rs1256770289 0.00001
NM_014231.5(VAMP1):c.105G>A (p.Gln35=)
NM_014231.5(VAMP1):c.129+19C>T
NM_014231.5(VAMP1):c.129G>C (p.Glu43Asp)
NM_014231.5(VAMP1):c.130-15C>G rs2137008471
NM_014231.5(VAMP1):c.130-6C>G rs781012325
NM_014231.5(VAMP1):c.146G>A (p.Arg49His)
NM_014231.5(VAMP1):c.159C>G (p.Asp53Glu)
NM_014231.5(VAMP1):c.16C>G (p.Gln6Glu)
NM_014231.5(VAMP1):c.17A>C (p.Gln6Pro)
NM_014231.5(VAMP1):c.195G>A (p.Leu65=)
NM_014231.5(VAMP1):c.2+19G>C
NM_014231.5(VAMP1):c.203G>A (p.Arg68Gln)
NM_014231.5(VAMP1):c.20C>T (p.Pro7Leu)
NM_014231.5(VAMP1):c.222A>G (p.Ala74=) rs2137008216
NM_014231.5(VAMP1):c.288+12T>G
NM_014231.5(VAMP1):c.289-16G>A
NM_014231.5(VAMP1):c.289-20T>G
NM_014231.5(VAMP1):c.289-6C>T
NM_014231.5(VAMP1):c.291G>C (p.Met97Ile)
NM_014231.5(VAMP1):c.3-12G>A
NM_014231.5(VAMP1):c.3-14_3-13del
NM_014231.5(VAMP1):c.3-19T>C
NM_014231.5(VAMP1):c.3-9T>C
NM_014231.5(VAMP1):c.311T>C (p.Ile104Thr)
NM_014231.5(VAMP1):c.324C>T (p.Ile108=)
NM_014231.5(VAMP1):c.336T>C (p.Ile112=)
NM_014231.5(VAMP1):c.338dup (p.Ile114fs)
NM_014231.5(VAMP1):c.340+12T>G
NM_014231.5(VAMP1):c.340+16G>A rs1949966453
NM_014231.5(VAMP1):c.340+20C>T
NM_014231.5(VAMP1):c.340+2T>A
NM_014231.5(VAMP1):c.340+2T>G rs878854975
NM_014231.5(VAMP1):c.340del (p.Ile114fs) rs746220436
NM_014231.5(VAMP1):c.341-10C>T
NM_014231.5(VAMP1):c.341-18C>A
NM_014231.5(VAMP1):c.341-18_341-16del rs2137003159
NM_014231.5(VAMP1):c.341-21_341-19delinsAAA rs2137003183
NM_014231.5(VAMP1):c.341-2A>G
NM_014231.5(VAMP1):c.341T>C (p.Ile114Thr) rs2137003108
NM_014231.5(VAMP1):c.346T>C (p.Phe116Leu)
NM_014231.5(VAMP1):c.351T>C (p.Phe117=)
NM_014231.5(VAMP1):c.55G>C (p.Gly19Arg)
NM_014231.5(VAMP1):c.58G>A (p.Gly20Ser) rs1950023147
NM_014231.5(VAMP1):c.59del (p.Gly20fs) rs1311863343
NM_014231.5(VAMP1):c.65del (p.Pro22fs) rs886042861
NM_014231.5(VAMP1):c.66del (p.Gly23fs)
NM_014231.5(VAMP1):c.71C>A (p.Pro24His)
NM_014231.5(VAMP1):c.74C>T (p.Pro25Leu) rs2137008968
NM_014231.5(VAMP1):c.97C>T (p.Arg33Ter) rs1308616721

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