ClinVar Miner

List of variants reported as benign for Werdnig-Hoffmann disease by Invitae

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP
NM_000044.6(AR):c.1370_1372GCG[14] (p.Gly471_Gly473del) rs746853821
NM_000044.6(AR):c.1370_1372GCG[18] (p.Gly473dup) rs746853821
NM_000044.6(AR):c.1536G>A (p.Val512=) rs150545747
NM_000044.6(AR):c.171_173GCA[15] (p.Gln73_Gln80del) rs3032358
NM_000044.6(AR):c.171_173GCA[18] (p.Gln76_Gln80del) rs3032358
NM_000044.6(AR):c.171_173GCA[19] (p.Gln77_Gln80del) rs3032358
NM_000044.6(AR):c.171_173GCA[20] (p.Gln78_Gln80del) rs3032358
NM_000044.6(AR):c.171_173GCA[24] (p.Gln80dup) rs3032358
NM_000044.6(AR):c.171_173GCA[28] (p.Gln76_Gln80dup) rs3032358
NM_000044.6(AR):c.171_173GCA[31] (p.Gln73_Gln80dup) rs3032358
NM_000044.6(AR):c.171_173GCA[32] (p.Gln72_Gln80dup) rs3032358
NM_000044.6(AR):c.2517C>T (p.Leu839=) rs6153
NM_000044.6(AR):c.636G>A (p.Arg212=) rs150226204
NM_024531.5(SLC52A2):c.1001+6C>T rs139398461
NM_024531.5(SLC52A2):c.1066C>T (p.Leu356=) rs138107380
NM_024531.5(SLC52A2):c.1089G>A (p.Pro363=) rs146292053
NM_024531.5(SLC52A2):c.353C>A (p.Ala118Asp) rs117500243
NM_024531.5(SLC52A2):c.359T>C (p.Val120Ala) rs74445699
NM_024531.5(SLC52A2):c.555C>T (p.Leu185=) rs74370046
NM_024531.5(SLC52A2):c.643C>T (p.Leu215=) rs147954962
NM_033409.4(SLC52A3):c.1047G>A (p.Ser349=) rs147369439
NM_033409.4(SLC52A3):c.1048T>A (p.Leu350Met) rs76947760
NM_033409.4(SLC52A3):c.240C>T (p.Gly80=) rs34376836
NM_033409.4(SLC52A3):c.339C>T (p.Phe113=) rs151229044
NM_033409.4(SLC52A3):c.363C>G (p.Thr121=) rs749966154
NM_033409.4(SLC52A3):c.521A>G (p.Asp174Gly) rs6054614
NM_033409.4(SLC52A3):c.600C>T (p.Pro200=) rs16992990
NM_033409.4(SLC52A3):c.705C>T (p.Leu235=) rs3746806
NM_033409.4(SLC52A3):c.936G>A (p.Ala312=) rs6054602
NM_033409.4(SLC52A3):c.981G>C (p.Leu327=) rs62641669
NM_033409.4(SLC52A3):c.9C>T (p.Phe3=) rs139486822

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