ClinVar Miner

Variants in gene STIL with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 10
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HGVS dbSNP gnomAD frequency
NM_001048166.1(STIL):c.257C>T (p.Ala86Val) rs3125630 0.58260
NM_001048166.1(STIL):c.2615+27A>G rs2742104 0.43900
NM_001048166.1(STIL):c.453+18C>T rs75983191 0.01360
NM_001048166.1(STIL):c.2017A>G (p.Ser673Gly) rs140448154 0.01146
NM_001048166.1(STIL):c.3378A>G (p.Arg1126=) rs142315727 0.00478
NM_001048166.1(STIL):c.1055G>A (p.Arg352His) rs141678367 0.00323
NM_001048166.1(STIL):c.1136C>T (p.Ser379Phe) rs149185431 0.00258
NM_001048166.1(STIL):c.1024-4T>C rs188900275 0.00229
NM_001048166.1(STIL):c.3581C>T (p.Pro1194Leu) rs144746030 0.00220
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe) rs139912214 0.00193

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