ClinVar Miner

List of variants studied for hereditary spastic paraplegia 11 by GeneReviews

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 98
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HGVS dbSNP gnomAD frequency
NM_025137.4(SPG11):c.6157G>A (p.Val2053Met) rs149003934 0.00006
NM_025137.4(SPG11):c.733_734del (p.Met245fs) rs312262720 0.00005
NM_025137.4(SPG11):c.3664_3665insT (p.Lys1222fs) rs312262755 0.00004
NM_025137.4(SPG11):c.2834+1G>T rs312262749 0.00003
NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter) rs118203963 0.00003
NM_025137.4(SPG11):c.1951C>T (p.Arg651Ter) rs199588440 0.00002
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter) rs141848292 0.00002
NM_025137.4(SPG11):c.704_705del (p.His235fs) rs312262719 0.00002
NM_025137.4(SPG11):c.1457-2A>G rs312262726 0.00001
NM_025137.4(SPG11):c.1492C>T (p.Gln498Ter) rs312262728 0.00001
NM_025137.4(SPG11):c.2316+1G>A rs312262740 0.00001
NM_025137.4(SPG11):c.4307_4308del (p.Gln1436fs) rs312262759 0.00001
NM_025137.4(SPG11):c.5470C>T (p.Arg1824Ter) rs312262767 0.00001
NM_025137.4(SPG11):c.5974C>T (p.Arg1992Ter) rs200793464 0.00001
NM_025137.4(SPG11):c.5986dup (p.Cys1996fs) rs312262775 0.00001
NM_025137.4(SPG11):c.6856C>T (p.Arg2286Ter) rs312262785 0.00001
NM_025137.4(SPG11):c.7152-1G>C rs200079802 0.00001
NM_025137.3(SPG11):c.3145_3146insCA (p.Asp1049Alafs)
NM_025137.3(SPG11):c.5456_5457del (p.Glu1819Alafs) rs312262764
NM_025137.3:c.5898+5493_6509-491del
NM_025137.3:c.5987_5990dupCTCT
NM_025137.3:c.6754+4insTG
NM_025137.4(SPG11):c.118C>T (p.Gln40Ter) rs267607084
NM_025137.4(SPG11):c.1203del (p.Asp402fs) rs312262722
NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter) rs312262723
NM_025137.4(SPG11):c.1282A>T (p.Lys428Ter) rs312262724
NM_025137.4(SPG11):c.1471_1472del (p.Leu491fs) rs312262727
NM_025137.4(SPG11):c.1549_1550del (p.Cys518fs) rs312262729
NM_025137.4(SPG11):c.1551_1552del (p.Cys518fs) rs312262730
NM_025137.4(SPG11):c.1668del (p.Phe556fs) rs312262731
NM_025137.4(SPG11):c.1679C>G (p.Ser560Ter) rs312262732
NM_025137.4(SPG11):c.1697_1711delinsTACTCCCA (p.Asp566fs) rs312262733
NM_025137.4(SPG11):c.1735+3_1735+6del rs312262734
NM_025137.4(SPG11):c.1837_1838insA (p.Leu613fs) rs312262735
NM_025137.4(SPG11):c.1845_1846del (p.Ser616fs) rs312262736
NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter) rs312262737
NM_025137.4(SPG11):c.2163dup (p.Ile722fs) rs312262738
NM_025137.4(SPG11):c.2198T>G (p.Leu733Ter) rs312262739
NM_025137.4(SPG11):c.2358_2359del (p.Arg788fs) rs312262741
NM_025137.4(SPG11):c.2444+1G>C rs312262743
NM_025137.4(SPG11):c.2444G>T (p.Arg815Met) rs312262742
NM_025137.4(SPG11):c.2472_2473insT (p.Lys825Ter) rs312262744
NM_025137.4(SPG11):c.2608A>G (p.Ile870Val) rs312262745
NM_025137.4(SPG11):c.267G>A (p.Trp89Ter) rs312262709
NM_025137.4(SPG11):c.268G>T (p.Glu90Ter) rs312262710
NM_025137.4(SPG11):c.2697G>A (p.Trp899Ter) rs312262746
NM_025137.4(SPG11):c.2716del (p.Gln906fs) rs312262747
NM_025137.4(SPG11):c.2833A>G (p.Arg945Gly) rs312262748
NM_025137.4(SPG11):c.2842dup (p.Val948fs) rs312262750
NM_025137.4(SPG11):c.2849dup (p.Leu950fs) rs1470463921
NM_025137.4(SPG11):c.3075dup (p.Glu1026fs) rs312262752
NM_025137.4(SPG11):c.3291+1G>T rs312262753
NM_025137.4(SPG11):c.349G>T (p.Glu117Ter) rs312262711
NM_025137.4(SPG11):c.359del (p.Asn119_Leu120insTer) rs312262712
NM_025137.4(SPG11):c.3602_3603del (p.Tyr1201fs) rs312262754
NM_025137.4(SPG11):c.3719_3720del (p.Ile1240fs) rs312262756
NM_025137.4(SPG11):c.3741dup (p.Pro1248fs) rs312262757
NM_025137.4(SPG11):c.398del (p.Cys133fs) rs312262713
NM_025137.4(SPG11):c.4046T>A (p.Phe1349Tyr) rs312262758
NM_025137.4(SPG11):c.408_428del (p.Glu136_Ile142del) rs312262714
NM_025137.4(SPG11):c.442+1G>C rs312262715
NM_025137.4(SPG11):c.4462_4463del (p.Val1488fs) rs587777921
NM_025137.4(SPG11):c.4668T>A (p.Tyr1556Ter) rs312262761
NM_025137.4(SPG11):c.4846C>T (p.Gln1616Ter) rs312262762
NM_025137.4(SPG11):c.5255del (p.Phe1752fs) rs312262763
NM_025137.4(SPG11):c.529_533del (p.Ile177fs) rs312262716
NM_025137.4(SPG11):c.5399_5402delinsTGGAGGAG (p.Gln1800fs) rs312262765
NM_025137.4(SPG11):c.5410_5411del (p.Cys1804fs) rs312262766
NM_025137.4(SPG11):c.5532_5533del (p.Lys1845fs) rs312262768
NM_025137.4(SPG11):c.5703del (p.His1902fs) rs312262769
NM_025137.4(SPG11):c.5769del (p.Ser1923fs) rs312262770
NM_025137.4(SPG11):c.5798del (p.Ala1933fs) rs312262771
NM_025137.4(SPG11):c.5867-3237_6478-451del
NM_025137.4(SPG11):c.5870C>G (p.Ser1957Ter) rs312262772
NM_025137.4(SPG11):c.5970C>G (p.Tyr1990Ter) rs312262773
NM_025137.4(SPG11):c.5977C>T (p.Gln1993Ter) rs312262774
NM_025137.4(SPG11):c.5989_5992del (p.Leu1997fs) rs312262776
NM_025137.4(SPG11):c.5992dup (p.Tyr1998fs) rs312262777
NM_025137.4(SPG11):c.6091C>T (p.Arg2031Ter) rs147713329
NM_025137.4(SPG11):c.6206-1G>C rs312262778
NM_025137.4(SPG11):c.642del (p.Phe214fs) rs312262717
NM_025137.4(SPG11):c.6451del (p.Ala2151fs) rs312262779
NM_025137.4(SPG11):c.6477+4A>G rs312262780
NM_025137.4(SPG11):c.654_655delinsG (p.Ser218fs) rs312262718
NM_025137.4(SPG11):c.6737_6740del (p.Ile2246fs) rs312262781
NM_025137.4(SPG11):c.6739_6742del (p.Glu2247fs) rs312262782
NM_025137.4(SPG11):c.6790dup (p.Leu2264fs) rs312262783
NM_025137.4(SPG11):c.6832_6833del (p.Ser2278fs) rs312262784
NM_025137.4(SPG11):c.6898_6899del (p.Leu2300fs) rs312262786
NM_025137.4(SPG11):c.7000-3_7000-2insAGG rs312262787
NM_025137.4(SPG11):c.7023C>A (p.Tyr2341Ter) rs80338869
NM_025137.4(SPG11):c.7029dup (p.Val2344fs) rs312262788
NM_025137.4(SPG11):c.7085_7088dup (p.Tyr2363Ter) rs312262789
NM_025137.4(SPG11):c.7101dup (p.Lys2368Ter) rs312262790
NM_025137.4(SPG11):c.7151+4_7151+7del rs312262791
NM_025137.4(SPG11):c.7158_7159insACAA (p.Gln2387fs) rs312262792
NM_025137.4(SPG11):c.869+1G>A rs312262721
g.96677_99386del2710

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