ClinVar Miner

List of variants reported as pathogenic for Werdnig-Hoffmann disease

Included ClinVar conditions (11):
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Minimum conflict level:
ClinVar version:
Total variants: 123
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HGVS dbSNP
NC_000011.10:g.(68906754_68906786)_(68925257_68925289)del
NC_000020.10:g.(?_741650)_(746438_?)del
NC_000023.10:g.(?_66905852)_(66905968_?)del
NM_000044.4(AR):c.172_174CAG(10_36) (p.Gln69_Gln80del) rs3032358
NM_000044.4(AR):c.172_174CAG(38_68) (p.Gln80_Glu81insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln) rs3032358
NM_000044.6(AR):c.1310_1311CT[2] (p.Phe439fs)
NM_000044.6(AR):c.1440dup (p.Tyr481fs) rs1555970004
NM_000044.6(AR):c.1451_1454del (p.Thr484fs) rs1569265331
NM_000044.6(AR):c.1614dup (p.Arg539fs) rs1569265470
NM_000044.6(AR):c.1722_1723TC[1] (p.Leu575fs)
NM_000044.6(AR):c.174_175insTAG (p.Gln59Ter)
NM_000044.6(AR):c.1789G>A (p.Ala597Thr) rs137852569
NM_000044.6(AR):c.1823G>A (p.Arg608Gln) rs137852573
NM_000044.6(AR):c.1897A>T (p.Lys633Ter)
NM_000044.6(AR):c.195_199delinsTT (p.Gln65_Gln67delinsHisTer) rs1569263557
NM_000044.6(AR):c.2176T>C (p.Phe726Leu) rs1555996810
NM_000044.6(AR):c.2257C>T (p.Arg753Ter) rs886039558
NM_000044.6(AR):c.2296G>A (p.Ala766Thr) rs1555996863
NM_000044.6(AR):c.2318+1G>C rs1569314508
NM_000044.6(AR):c.2359C>T (p.Arg787Ter) rs1555997580
NM_000044.6(AR):c.2391G>A (p.Trp797Ter) rs137852565
NM_000044.6(AR):c.2495G>A (p.Arg832Gln) rs1386577803
NM_000044.6(AR):c.2521C>T (p.Arg841Cys) rs137852577
NM_000044.6(AR):c.2522G>A (p.Arg841His) rs9332969
NM_000044.6(AR):c.2528T>C (p.Ile843Thr)
NM_000044.6(AR):c.2546dup (p.Asn849fs)
NM_000044.6(AR):c.2567G>A (p.Arg856His) rs9332971
NM_000044.6(AR):c.2599G>A (p.Val867Met) rs137852564
NM_000044.6(AR):c.2612C>T (p.Ala871Val) rs143040492
NM_000044.6(AR):c.2668G>A (p.Val890Met) rs886041133
NM_000044.6(AR):c.2678C>T (p.Pro893Leu)
NM_000044.6(AR):c.271C>T (p.Gln91Ter)
NM_000044.6(AR):c.292C>T (p.Gln98Ter) rs1555969553
NM_000044.6(AR):c.749dup (p.Val251fs) rs1555969684
NM_000044.6(AR):c.756_765del (p.Glu252fs)
NM_000044.6(AR):c.830_845dup (p.Pro283fs) rs1569264288
NM_000344.3(SMN1):c.131A>T (p.Asp44Val) rs104893931
NM_000344.3(SMN1):c.283G>C (p.Gly95Arg) rs104893927
NM_000344.3(SMN1):c.305G>A (p.Trp102Ter) rs77804083
NM_000344.3(SMN1):c.332C>G (p.Ala111Gly) rs104893935
NM_000344.3(SMN1):c.346A>T (p.Ile116Phe) rs104893933
NM_000344.3(SMN1):c.388T>C (p.Tyr130His) rs397514518
NM_000344.3(SMN1):c.389A>G (p.Tyr130Cys) rs397514517
NM_000344.3(SMN1):c.397_398AG[1] (p.Glu134fs)
NM_000344.3(SMN1):c.406C>G (p.Gln136Glu) rs104893934
NM_000344.3(SMN1):c.48_55dup (p.Val19fs) rs1561498701
NM_000344.3(SMN1):c.5C>G (p.Ala2Gly) rs1554066397
NM_000344.3(SMN1):c.724-2A>G rs1561500842
NM_000344.3(SMN1):c.770_780dup (p.Gly261fs) rs1561500847
NM_000344.3(SMN1):c.784A>G (p.Ser262Gly) rs104893932
NM_000344.3(SMN1):c.785G>T (p.Ser262Ile) rs1554066659
NM_000344.3(SMN1):c.815A>G (p.Tyr272Cys) rs104893922
NM_000344.3(SMN1):c.821C>T (p.Thr274Ile) rs1554066666
NM_000344.3(SMN1):c.835-2A>G rs141760116
NM_000344.3(SMN1):c.835-3C>T rs772466166
NM_000344.3(SMN1):c.836G>T (p.Gly279Val) rs76163360
NM_000344.3(SMN1):c.840C>T (p.Phe280=) rs1164325688
NM_000344.3(SMN1):c.88G>A (p.Asp30Asn) rs104893930
NM_001253816.1(SLC52A2):c.1016T>C (p.Leu339Pro) rs148234606
NM_001253816.1(SLC52A2):c.1088C>T (p.Pro363Leu) rs797045202
NM_001253816.1(SLC52A2):c.116_130+83del rs1564653965
NM_001253816.1(SLC52A2):c.1255G>A (p.Gly419Ser) rs397514658
NM_001253816.1(SLC52A2):c.1258G>A (p.Ala420Thr) rs368924997
NM_001253816.1(SLC52A2):c.155C>T (p.Ser52Phe) rs397514657
NM_001253816.1(SLC52A2):c.297G>C (p.Trp99Cys) rs782591841
NM_001253816.1(SLC52A2):c.368T>C (p.Leu123Pro) rs397514538
NM_001253816.1(SLC52A2):c.383C>T (p.Ser128Leu) rs374071862
NM_001253816.1(SLC52A2):c.551del (p.Pro184fs) rs1554854044
NM_001253816.1(SLC52A2):c.700C>T (p.Gln234Ter) rs797045200
NM_001253816.1(SLC52A2):c.751C>T (p.Gln251Ter)
NM_001253816.1(SLC52A2):c.808C>T (p.Gln270Ter) rs375088539
NM_001253816.1(SLC52A2):c.851C>A (p.Ala284Asp) rs398123067
NM_001253816.1(SLC52A2):c.865C>T (p.Leu289=) rs797045201
NM_001253816.1(SLC52A2):c.914A>G (p.Tyr305Cys) rs398123068
NM_001253816.1(SLC52A2):c.916G>A (p.Gly306Arg) rs398124641
NM_001253816.1(SLC52A2):c.92G>C (p.Trp31Ser) rs797045199
NM_001253816.1(SLC52A2):c.935T>C (p.Leu312Pro) rs754320812
NM_002180.2(IGHMBP2):c.1107C>G (p.Phe369Leu) rs137852670
NM_002180.2(IGHMBP2):c.121C>T (p.Gln41Ter) rs137852668
NM_002180.2(IGHMBP2):c.1540G>A (p.Glu514Lys) rs137852665
NM_002180.2(IGHMBP2):c.1738G>A (p.Val580Ile) rs137852667
NM_002180.2(IGHMBP2):c.2611+1G>T rs786205090
NM_002180.2(IGHMBP2):c.638A>G (p.His213Arg) rs137852666
NM_002180.2(IGHMBP2):c.675del (p.Glu226fs) rs786205089
NM_002180.2(IGHMBP2):c.707T>G (p.Leu236Ter) rs137852669
NM_017411.3(SMN2):c.859G>C (p.Gly287Arg) rs121909192
NM_033409.3(SLC52A3):c.568-16_568-15insATTGACCTG rs3833341
NM_033409.3:c.1128-1129_insT
NM_033409.4(SLC52A3):c.1048T>A (p.Leu350Met) rs76947760
NM_033409.4(SLC52A3):c.106G>A (p.Glu36Lys) rs267606686
NM_033409.4(SLC52A3):c.1198-2A>C rs754753126
NM_033409.4(SLC52A3):c.1238T>C (p.Val413Ala) rs267606687
NM_033409.4(SLC52A3):c.1255G>A (p.Val419Met) rs797045198
NM_033409.4(SLC52A3):c.1293G>A (p.Trp431Ter) rs1060499531
NM_033409.4(SLC52A3):c.1296C>A (p.Cys432Ter) rs758570021
NM_033409.4(SLC52A3):c.1325_1326del (p.Leu442fs) rs794728004
NM_033409.4(SLC52A3):c.1371C>G (p.Phe457Leu) rs145431028
NM_033409.4(SLC52A3):c.160G>A (p.Gly54Arg) rs797045191
NM_033409.4(SLC52A3):c.173T>A (p.Val58Asp) rs797045192
NM_033409.4(SLC52A3):c.211G>A (p.Glu71Lys) rs267606683
NM_033409.4(SLC52A3):c.211G>T (p.Glu71Ter) rs267606683
NM_033409.4(SLC52A3):c.224T>C (p.Ile75Thr) rs797045193
NM_033409.4(SLC52A3):c.374C>A (p.Thr125Asn) rs767263985
NM_033409.4(SLC52A3):c.394C>T (p.Arg132Trp) rs267606684
NM_033409.4(SLC52A3):c.403A>G (p.Thr135Ala) rs527853872
NM_033409.4(SLC52A3):c.49T>C (p.Trp17Arg) rs797045190
NM_033409.4(SLC52A3):c.62A>G (p.Asn21Ser) rs199588390
NM_033409.4(SLC52A3):c.634C>T (p.Arg212Cys) rs778479139
NM_033409.4(SLC52A3):c.639C>G (p.Tyr213Ter) rs778363575
NM_033409.4(SLC52A3):c.659C>A (p.Pro220His) rs797045194
NM_033409.4(SLC52A3):c.670T>C (p.Phe224Leu) rs267606685
NM_033409.4(SLC52A3):c.671T>G (p.Phe224Cys) rs797045197
NM_033409.4(SLC52A3):c.796C>T (p.Arg266Trp) rs370499474
NM_033409.4(SLC52A3):c.82C>A (p.Pro28Thr) rs267606688
NM_033409.4(SLC52A3):c.935C>T (p.Ala312Val) rs752218005
NM_033409.4(SLC52A3):c.955C>T (p.Pro319Ser) rs797045195
NM_033409.4(SLC52A3):c.989G>T (p.Gly330Val) rs797045196
SMN1, 11-BP DUP, 801-811
SMN1, 5-BP DEL, 425
SMN1, DEL
SMN1, EX8DEL
SMN1, IVS7DS, T-G, +6
Single allele rs1554082110

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