ClinVar Miner

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

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 14
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HGVS dbSNP gnomAD frequency
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.1069G>A (p.Ala357Thr) rs75426387 0.00194
NM_001048166.1(STIL):c.2362G>A (p.Val788Ile) rs149697952 0.00111
NM_001048166.1(STIL):c.2906A>G (p.His969Arg) rs148193936 0.00085
NM_001048166.1(STIL):c.3156C>T (p.Ser1052=) rs113337758 0.00043
NM_001048166.1(STIL):c.1005A>G (p.Glu335=) rs149296029 0.00030
NM_001048166.1(STIL):c.152+4T>C rs368201717 0.00029
NM_001048166.1(STIL):c.2259C>G (p.Ser753=) rs774035449 0.00008
NM_001048166.1(STIL):c.1227T>C (p.Ser409=) rs200532713 0.00004
NM_001048166.1(STIL):c.2132C>T (p.Ser711Leu) rs201448287 0.00004
NM_001048166.1(STIL):c.892A>G (p.Asn298Asp) rs770213403 0.00004
NM_001048166.1(STIL):c.2070A>T (p.Ser690=) rs367887740
NM_001048166.1(STIL):c.873-6G>T rs375670720

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