ClinVar Miner

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

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 99
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HGVS dbSNP gnomAD frequency
NM_018389.5(SLC35C1):c.*1208G>A rs115509471 0.00851
NM_018389.5(SLC35C1):c.1054C>T (p.Pro352Ser) rs145613857 0.00391
NM_018389.4(SLC35C1):c.-665C>T rs530622849 0.00288
NM_018389.5(SLC35C1):c.598G>A (p.Val200Ile) rs146971634 0.00118
NM_018389.5(SLC35C1):c.*1569G>C rs139986610 0.00108
NM_018389.5(SLC35C1):c.748G>A (p.Gly250Arg) rs148606857 0.00073
NM_018389.5(SLC35C1):c.747C>T (p.Leu249=) rs567642788 0.00013
NM_018389.5(SLC35C1):c.663G>A (p.Pro221=) rs111773874 0.00012
NM_018389.5(SLC35C1):c.975G>A (p.Thr325=) rs377098836 0.00011
NM_018389.5(SLC35C1):c.597C>T (p.Thr199=) rs376082724 0.00006
NM_018389.5(SLC35C1):c.879G>A (p.Pro293=) rs573349525 0.00006
NM_018389.5(SLC35C1):c.903G>T (p.Thr301=) rs150743224 0.00006
NM_018389.5(SLC35C1):c.585G>A (p.Ser195=) rs750284604 0.00005
NM_018389.5(SLC35C1):c.606C>T (p.Gly202=) rs757590578 0.00005
NM_018389.5(SLC35C1):c.153C>G (p.Thr51=) rs773263009 0.00004
NM_018389.5(SLC35C1):c.645C>T (p.Tyr215=) rs200626011 0.00004
NM_018389.5(SLC35C1):c.858G>A (p.Leu286=) rs769671439 0.00004
NM_018389.5(SLC35C1):c.633C>G (p.Leu211=) rs372353822 0.00003
NM_018389.5(SLC35C1):c.711C>T (p.Asn237=) rs777163801 0.00003
NM_018389.5(SLC35C1):c.742C>T (p.Leu248=) rs774081262 0.00003
NM_018389.5(SLC35C1):c.939C>T (p.Leu313=) rs776684184 0.00003
NM_018389.5(SLC35C1):c.51C>T (p.Thr17=) rs768517924 0.00002
NM_018389.5(SLC35C1):c.636C>T (p.Asn212=) rs549069990 0.00002
NM_018389.5(SLC35C1):c.819C>T (p.Gly273=) rs774033676 0.00002
NM_018389.5(SLC35C1):c.1080C>T (p.Ser360=) rs749987181 0.00001
NM_018389.5(SLC35C1):c.130G>A (p.Val44Met) rs541937245 0.00001
NM_018389.5(SLC35C1):c.312C>T (p.Phe104=) rs75224835 0.00001
NM_018389.5(SLC35C1):c.354G>A (p.Leu118=) rs777637034 0.00001
NM_018389.5(SLC35C1):c.372C>T (p.Phe124=) rs1172535420 0.00001
NM_018389.5(SLC35C1):c.495C>T (p.Thr165=) rs1218424425 0.00001
NM_018389.5(SLC35C1):c.501C>T (p.Ser167=) rs956237776 0.00001
NM_018389.5(SLC35C1):c.536-10C>G rs759978339 0.00001
NM_018389.5(SLC35C1):c.630G>A (p.Ser210=) rs200577486 0.00001
NM_018389.5(SLC35C1):c.666G>A (p.Ala222=) rs754930082 0.00001
NM_018389.5(SLC35C1):c.837C>T (p.Ala279=) rs371692301 0.00001
NM_018389.5(SLC35C1):c.846C>T (p.Tyr282=) rs748113243 0.00001
NM_018389.5(SLC35C1):c.897G>A (p.Ser299=) rs141170131 0.00001
NM_018389.5(SLC35C1):c.924A>G (p.Thr308=) rs1489703407 0.00001
NM_018389.5(SLC35C1):c.933C>T (p.Ala311=) rs1025394775 0.00001
NM_018389.5(SLC35C1):c.*1636G>T rs79173599
NM_018389.5(SLC35C1):c.1005C>T (p.Ser335=)
NM_018389.5(SLC35C1):c.1008C>T (p.Ala336=) rs2134598644
NM_018389.5(SLC35C1):c.108G>A (p.Leu36=)
NM_018389.5(SLC35C1):c.123C>T (p.Ile41=) rs1590742957
NM_018389.5(SLC35C1):c.126G>C (p.Ala42=)
NM_018389.5(SLC35C1):c.12C>T (p.Ala4=)
NM_018389.5(SLC35C1):c.150C>T (p.Val50=)
NM_018389.5(SLC35C1):c.183C>T (p.Tyr61=)
NM_018389.5(SLC35C1):c.198C>T (p.Pro66=) rs1358909221
NM_018389.5(SLC35C1):c.204G>A (p.Leu68=)
NM_018389.5(SLC35C1):c.207G>A (p.Arg69=) rs757588395
NM_018389.5(SLC35C1):c.216C>T (p.Thr72=)
NM_018389.5(SLC35C1):c.222C>A (p.Ile74=)
NM_018389.5(SLC35C1):c.231C>G (p.Thr77=) rs1162234989
NM_018389.5(SLC35C1):c.255G>A (p.Thr85=)
NM_018389.5(SLC35C1):c.255G>T (p.Thr85=)
NM_018389.5(SLC35C1):c.258G>A (p.Leu86=)
NM_018389.5(SLC35C1):c.291C>T (p.Cys97=)
NM_018389.5(SLC35C1):c.303C>T (p.Ala101=) rs1252172682
NM_018389.5(SLC35C1):c.309C>T (p.Asp103=)
NM_018389.5(SLC35C1):c.330C>T (p.Asp110=)
NM_018389.5(SLC35C1):c.336G>A (p.Arg112=)
NM_018389.5(SLC35C1):c.345C>T (p.Arg115=)
NM_018389.5(SLC35C1):c.348C>T (p.Ser116=) rs755762331
NM_018389.5(SLC35C1):c.357C>T (p.Pro119=)
NM_018389.5(SLC35C1):c.360G>A (p.Leu120=)
NM_018389.5(SLC35C1):c.363G>A (p.Ser121=)
NM_018389.5(SLC35C1):c.402C>T (p.Cys134=) rs955606062
NM_018389.5(SLC35C1):c.408G>A (p.Lys136=) rs1297705723
NM_018389.5(SLC35C1):c.411C>T (p.Tyr137=)
NM_018389.5(SLC35C1):c.447C>T (p.Leu149=)
NM_018389.5(SLC35C1):c.453C>T (p.Thr151=)
NM_018389.5(SLC35C1):c.535+20A>G
NM_018389.5(SLC35C1):c.536-16C>T
NM_018389.5(SLC35C1):c.536-21CTC[2] rs771937822
NM_018389.5(SLC35C1):c.549T>C (p.Leu183=)
NM_018389.5(SLC35C1):c.564G>A (p.Glu188=) rs543075977
NM_018389.5(SLC35C1):c.567G>C (p.Gly189=)
NM_018389.5(SLC35C1):c.580C>T (p.Leu194=)
NM_018389.5(SLC35C1):c.603C>T (p.Phe201=)
NM_018389.5(SLC35C1):c.60A>G (p.Ser20=)
NM_018389.5(SLC35C1):c.651G>T (p.Thr217=)
NM_018389.5(SLC35C1):c.66C>T (p.Pro22=)
NM_018389.5(SLC35C1):c.672C>T (p.Asp224=) rs528291665
NM_018389.5(SLC35C1):c.705C>T (p.Asn235=)
NM_018389.5(SLC35C1):c.717_718inv (p.Ile240Val)
NM_018389.5(SLC35C1):c.738C>G (p.Leu246=)
NM_018389.5(SLC35C1):c.744G>T (p.Leu248=)
NM_018389.5(SLC35C1):c.759G>A (p.Gln253=)
NM_018389.5(SLC35C1):c.78A>G (p.Ala26=) rs112575013
NM_018389.5(SLC35C1):c.840C>A (p.Ile280=) rs368103927
NM_018389.5(SLC35C1):c.840C>T (p.Ile280=) rs368103927
NM_018389.5(SLC35C1):c.84C>A (p.Ala28=)
NM_018389.5(SLC35C1):c.861G>A (p.Gln287=)
NM_018389.5(SLC35C1):c.885C>T (p.Thr295=)
NM_018389.5(SLC35C1):c.933C>G (p.Ala311=) rs1025394775
NM_018389.5(SLC35C1):c.945C>T (p.Tyr315=)
NM_018389.5(SLC35C1):c.954C>G (p.Thr318=)
NM_018389.5(SLC35C1):c.978C>T (p.Ser326=)

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