ClinVar Miner

List of variants in gene SLC52A2 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: 16
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HGVS dbSNP
NM_001253816.1(SLC52A2):c.1113G>A (p.Gly371=) rs149575570
NM_001253816.1(SLC52A2):c.1122C>T (p.Leu374=) rs144290224
NM_001253816.1(SLC52A2):c.1209G>A (p.Pro403=) rs374612342
NM_001253816.1(SLC52A2):c.126A>C (p.Pro42=) rs527404024
NM_001253816.1(SLC52A2):c.144C>G (p.Pro48=) rs1554853841
NM_001253816.1(SLC52A2):c.228C>T (p.Asp76=) rs111588500
NM_001253816.1(SLC52A2):c.363G>C (p.Leu121=) rs1554853933
NM_001253816.1(SLC52A2):c.415C>T (p.Leu139=) rs1554853955
NM_001253816.1(SLC52A2):c.487C>T (p.Leu163=) rs781887989
NM_001253816.1(SLC52A2):c.606C>T (p.Ala202=) rs187632310
NM_001253816.1(SLC52A2):c.669T>C (p.Ser223=) rs1554854127
NM_001253816.1(SLC52A2):c.835C>T (p.Leu279=) rs782298419
NM_001253816.1(SLC52A2):c.84T>C (p.Asn28=) rs200102613
NM_001253816.1(SLC52A2):c.864G>A (p.Ala288=) rs782702240
NM_001253816.1(SLC52A2):c.888C>T (p.Ala296=) rs375399467
NM_001253816.1(SLC52A2):c.951C>T (p.Gly317=) rs543461928

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