ClinVar Miner

List of variants reported as pathogenic for Werdnig-Hoffmann disease by GeneReviews

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 47
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HGVS dbSNP
NM_000044.4(AR):c.172_174CAG(38_68) (p.Gln80_Glu81insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln) rs3032358
NM_001253816.1(SLC52A2):c.1016T>C (p.Leu339Pro) rs148234606
NM_017411.3(SMN2):c.859G>C (p.Gly287Arg) rs121909192
NM_024531.4(SLC52A2):c.1088C>T (p.Pro363Leu) rs797045202
NM_024531.4(SLC52A2):c.1255G>A (p.Gly419Ser) rs397514658
NM_024531.4(SLC52A2):c.1258G>A (p.Ala420Thr) rs368924997
NM_024531.4(SLC52A2):c.155C>T (p.Ser52Phe) rs397514657
NM_024531.4(SLC52A2):c.368T>C (p.Leu123Pro) rs397514538
NM_024531.4(SLC52A2):c.383C>T (p.Ser128Leu) rs374071862
NM_024531.4(SLC52A2):c.700C>T (p.Gln234Ter) rs797045200
NM_024531.4(SLC52A2):c.851C>A (p.Ala284Asp) rs398123067
NM_024531.4(SLC52A2):c.865C>T (p.Leu289=) rs797045201
NM_024531.4(SLC52A2):c.914A>G (p.Tyr305Cys) rs398123068
NM_024531.4(SLC52A2):c.916G>A (p.Gly306Arg) rs398124641
NM_024531.4(SLC52A2):c.92G>C (p.Trp31Ser) rs797045199
NM_024531.4(SLC52A2):c.935T>C (p.Leu312Pro) rs754320812
NM_033409.3(SLC52A3):c.1048T>A (p.Leu350Met) rs76947760
NM_033409.3(SLC52A3):c.106G>A (p.Glu36Lys) rs267606686
NM_033409.3(SLC52A3):c.1198-2A>C rs754753126
NM_033409.3(SLC52A3):c.1238T>C (p.Val413Ala) rs267606687
NM_033409.3(SLC52A3):c.1255G>A (p.Val419Met) rs797045198
NM_033409.3(SLC52A3):c.1293G>A (p.Trp431Ter) rs1060499531
NM_033409.3(SLC52A3):c.1296C>A (p.Cys432Ter) rs758570021
NM_033409.3(SLC52A3):c.1325_1326delTC (p.Leu442Argfs) rs794728004
NM_033409.3(SLC52A3):c.1371C>G (p.Phe457Leu) rs145431028
NM_033409.3(SLC52A3):c.160G>A (p.Gly54Arg) rs797045191
NM_033409.3(SLC52A3):c.173T>A (p.Val58Asp) rs797045192
NM_033409.3(SLC52A3):c.211G>A (p.Glu71Lys) rs267606683
NM_033409.3(SLC52A3):c.211G>T (p.Glu71Ter) rs267606683
NM_033409.3(SLC52A3):c.224T>C (p.Ile75Thr) rs797045193
NM_033409.3(SLC52A3):c.374C>A (p.Thr125Asn) rs767263985
NM_033409.3(SLC52A3):c.394C>T (p.Arg132Trp) rs267606684
NM_033409.3(SLC52A3):c.403A>G (p.Thr135Ala) rs527853872
NM_033409.3(SLC52A3):c.49T>C (p.Trp17Arg) rs797045190
NM_033409.3(SLC52A3):c.568-19_568-18insCTGATTGAC
NM_033409.3(SLC52A3):c.62A>G (p.Asn21Ser) rs199588390
NM_033409.3(SLC52A3):c.634C>T (p.Arg212Cys) rs778479139
NM_033409.3(SLC52A3):c.639C>G (p.Tyr213Ter) rs778363575
NM_033409.3(SLC52A3):c.659C>A (p.Pro220His) rs797045194
NM_033409.3(SLC52A3):c.670T>C (p.Phe224Leu) rs267606685
NM_033409.3(SLC52A3):c.671T>G (p.Phe224Cys) rs797045197
NM_033409.3(SLC52A3):c.796C>T (p.Arg266Trp) rs370499474
NM_033409.3(SLC52A3):c.82C>A (p.Pro28Thr) rs267606688
NM_033409.3(SLC52A3):c.935C>T (p.Ala312Val) rs752218005
NM_033409.3(SLC52A3):c.955C>T (p.Pro319Ser) rs797045195
NM_033409.3(SLC52A3):c.989G>T (p.Gly330Val) rs797045196
NM_033409.3:c.1128-1129_insT

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