ClinVar Miner

List of variants in gene SLC52A3 reported as likely benign for Werdnig-Hoffmann disease

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_033409.4(SLC52A3):c.1095C>T (p.Val365=) rs776667122
NM_033409.4(SLC52A3):c.1278C>T (p.Arg426=) rs139137879
NM_033409.4(SLC52A3):c.1374G>T (p.Ser458=) rs758484328
NM_033409.4(SLC52A3):c.210C>T (p.Ser70=) rs1455468261
NM_033409.4(SLC52A3):c.241G>A (p.Val81Met) rs546240059
NM_033409.4(SLC52A3):c.438A>G (p.Gly146=) rs149076913
NM_033409.4(SLC52A3):c.546G>A (p.Thr182=) rs139965967
NM_033409.4(SLC52A3):c.618G>A (p.Leu206=) rs1418663109
NM_033409.4(SLC52A3):c.801G>A (p.Pro267=) rs146474751
NM_033409.4(SLC52A3):c.834G>A (p.Thr278=) rs756359704
NM_033409.4(SLC52A3):c.894G>A (p.Ala298=) rs532778217
NM_033409.4(SLC52A3):c.933C>T (p.Asn311=) rs534678154
NM_033409.4(SLC52A3):c.945C>T (p.Asn315=) rs139430185
NM_033409.4(SLC52A3):c.987T>C (p.Tyr329=) rs376546378

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