ClinVar Miner

List of variants in gene CAPN1 studied for Autosomal recessive spastic paraplegia type 76

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_005186.4(CAPN1):c.1341+25A>T rs2271450 0.34753
NM_005186.4(CAPN1):c.338-102A>T rs2277307 0.24172
NM_005186.4(CAPN1):c.363C>T (p.Ile121=) rs17583 0.24155
NM_005186.4(CAPN1):c.221G>A (p.Gly74Asp) rs201318945 0.00026
NM_005186.4(CAPN1):c.1341+7A>T rs368589277 0.00021
NM_005186.4(CAPN1):c.1605+5G>A rs375817528 0.00011
NM_005186.4(CAPN1):c.911C>T (p.Thr304Met) rs377052700 0.00008
NM_005186.4(CAPN1):c.929+2T>A rs1356340954 0.00004
NM_005186.4(CAPN1):c.618_619del (p.Gly208fs) rs778722037 0.00003
NM_005186.4(CAPN1):c.949G>A (p.Val317Met) rs575591830 0.00003
NM_005186.4(CAPN1):c.1442G>A (p.Arg481Gln) rs763471308 0.00002
NM_005186.4(CAPN1):c.1015C>T (p.Arg339Ter) rs1033887530 0.00001
NM_005186.4(CAPN1):c.1153C>T (p.Arg385Ter) rs955142329 0.00001
NM_005186.4(CAPN1):c.1176G>A (p.Trp392Ter) rs756830713 0.00001
NM_005186.4(CAPN1):c.843+1G>C rs781683198 0.00001
NC_000011.9:g.(64956218_64972153)_(64974291_64975525)del
NM_005186.4(CAPN1):c.1005G>A (p.Trp335Ter) rs1428333006
NM_005186.4(CAPN1):c.1010C>A (p.Ser337Ter) rs778438052
NM_005186.4(CAPN1):c.1124G>T (p.Trp375Leu)
NM_005186.4(CAPN1):c.1129_1133del (p.Arg377fs) rs1948677308
NM_005186.4(CAPN1):c.1165+1G>A rs781004578
NM_005186.4(CAPN1):c.1341G>C (p.Glu447Asp) rs1471188671
NM_005186.4(CAPN1):c.1418_1419del (p.Arg473fs) rs1948961118
NM_005186.4(CAPN1):c.1579C>T (p.Gln527Ter) rs875989787
NM_005186.4(CAPN1):c.1697dup (p.Leu566fs) rs1948992593
NM_005186.4(CAPN1):c.181_182insC (p.Phe61fs) rs2539251246
NM_005186.4(CAPN1):c.254G>A (p.Trp85Ter) rs1948565964
NM_005186.4(CAPN1):c.338-1G>A rs1590847310
NM_005186.4(CAPN1):c.407del (p.Pro136fs) rs875989845
NM_005186.4(CAPN1):c.532_558del (p.Val178_Phe186del) rs2137317649
NM_005186.4(CAPN1):c.623G>A (p.Gly208Asp) rs776839253
NM_005186.4(CAPN1):c.667G>T (p.Glu223Ter) rs779787878
NM_005186.4(CAPN1):c.805G>A (p.Val269Met) rs1310011775
NM_005186.4(CAPN1):c.843+114del rs3832790
NM_005186.4(CAPN1):c.853C>T (p.Arg285Ter) rs1033093801
NM_005186.4(CAPN1):c.884G>C (p.Arg295Pro) rs756205995

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