ClinVar Miner

List of variants in gene SLC35C1 reported as benign for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_018389.5(SLC35C1):c.*1158C>T rs4756027 0.84749
NM_018389.5(SLC35C1):c.*1312T>C rs7943306 0.79007
NM_018389.5(SLC35C1):c.*49G>A rs1139266 0.63052
NM_018389.5(SLC35C1):c.-3A>G rs3808976 0.27016
NM_018389.5(SLC35C1):c.*1315C>T rs55758172 0.19265
NM_018389.5(SLC35C1):c.*1074C>T rs4756026 0.19261
NM_018389.5(SLC35C1):c.-303G>C rs12289963 0.17005
NM_018389.5(SLC35C1):c.718A>G (p.Ile240Val) rs7130656 0.12992
NM_018389.5(SLC35C1):c.-632G>A rs77254044 0.11737
NM_018389.5(SLC35C1):c.*1580C>T rs10838518 0.07780
NM_018389.5(SLC35C1):c.*414G>A rs1139267 0.05406
NM_018389.5(SLC35C1):c.*955C>A rs76564550 0.03946
NM_018389.5(SLC35C1):c.-173C>T rs78455013 0.01481
NM_018389.5(SLC35C1):c.1047G>A (p.Pro349=) rs113735964 0.00399
NM_018389.5(SLC35C1):c.*1404G>A rs142012266 0.00295
NM_018389.5(SLC35C1):c.522C>T (p.Cys174=) rs141379070 0.00284
NM_018389.5(SLC35C1):c.226G>A (p.Val76Ile) rs200202916 0.00015
NM_018389.5(SLC35C1):c.*1636G>A rs79173599

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