ClinVar Miner

List of variants reported as uncertain significance for Sneddon syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_001282225.2(ADA2):c.194C>T (p.Thr65Met) rs61747288 0.00068
NM_001282225.2(ADA2):c.1385T>C (p.Ile462Thr) rs61744537 0.00053
NM_001282225.2(ADA2):c.143G>A (p.Gly48Glu) rs140149634 0.00016
NM_001282225.2(ADA2):c.985G>A (p.Asp329Asn) rs369716341 0.00012
NM_001282225.2(ADA2):c.1465G>C (p.Glu489Gln) rs45497794 0.00011
NM_001282225.2(ADA2):c.104C>T (p.Ala35Val) rs151283756 0.00010
NM_001282225.2(ADA2):c.1373T>G (p.Val458Gly) rs748893301 0.00010
NM_001282225.2(ADA2):c.632T>A (p.Phe211Tyr) rs373928007 0.00009
NM_001282225.2(ADA2):c.362T>C (p.Met121Thr) rs189403607 0.00006
NM_001282225.2(ADA2):c.562C>G (p.Leu188Val) rs765219776 0.00006
NM_001282225.2(ADA2):c.950C>T (p.Thr317Met) rs146788085 0.00006
NM_001282225.2(ADA2):c.729G>A (p.Met243Ile) rs151014930 0.00004
NM_001282225.2(ADA2):c.1335G>A (p.Met445Ile) rs1265300292 0.00003
NM_001282225.2(ADA2):c.1531A>C (p.Lys511Gln) rs535337577 0.00003
NM_001282225.2(ADA2):c.32C>T (p.Ala11Val) rs147655483 0.00003
NM_001282225.2(ADA2):c.79G>T (p.Ala27Ser) rs766768505 0.00003
NM_001282225.2(ADA2):c.100C>T (p.Arg34Trp) rs750955849 0.00002
NM_001282225.2(ADA2):c.1349G>C (p.Gly450Ala) rs771622323 0.00002
NM_001282225.2(ADA2):c.1355C>G (p.Ser452Cys) rs747458336 0.00002
NM_001282225.2(ADA2):c.205G>A (p.Ala69Thr) rs374965869 0.00002
NM_001282225.2(ADA2):c.289C>G (p.Gln97Glu) rs370709874 0.00002
NM_001282225.2(ADA2):c.638C>T (p.Thr213Ile) rs1446203580 0.00002
NM_001282225.2(ADA2):c.878A>G (p.His293Arg) rs767494439 0.00002
NM_001282225.2(ADA2):c.1007A>G (p.Asp336Gly) rs377213003 0.00001
NM_001282225.2(ADA2):c.1069G>A (p.Ala357Thr) rs374974565 0.00001
NM_001282225.2(ADA2):c.1099A>C (p.Ile367Leu) rs780583418 0.00001
NM_001282225.2(ADA2):c.10G>A (p.Asp4Asn) rs370257828 0.00001
NM_001282225.2(ADA2):c.1118A>T (p.Asp373Val) rs375443506 0.00001
NM_001282225.2(ADA2):c.1172A>G (p.His391Arg) rs749413678 0.00001
NM_001282225.2(ADA2):c.1430T>C (p.Met477Thr) rs369910191 0.00001
NM_001282225.2(ADA2):c.363G>A (p.Met121Ile) rs756689332 0.00001
NM_001282225.2(ADA2):c.578C>T (p.Pro193Leu) rs199567025 0.00001
NM_001282225.2(ADA2):c.647G>T (p.Gly216Val) rs766924184 0.00001
NM_001282225.2(ADA2):c.688C>T (p.Arg230Trp) rs777662147 0.00001
NM_001282225.2(ADA2):c.83T>C (p.Leu28Pro) rs777404100 0.00001
NM_001282225.2(ADA2):c.1071C>A (p.Ala357=) rs144447953
NM_001282225.2(ADA2):c.1269C>G (p.Asn423Lys) rs1226708979
NM_001282225.2(ADA2):c.1306A>G (p.Met436Val) rs763170250
NM_001282225.2(ADA2):c.1348G>A (p.Gly450Ser) rs1206824905
NM_001282225.2(ADA2):c.143G>C (p.Gly48Ala) rs140149634
NM_001282225.2(ADA2):c.143G>T (p.Gly48Val) rs140149634
NM_001282225.2(ADA2):c.370C>T (p.Leu124=) rs2123709418
NM_001282225.2(ADA2):c.434A>C (p.Gln145Pro) rs1437000359
NM_001282225.2(ADA2):c.612G>T (p.Trp204Cys) rs2062319375
NM_001282225.2(ADA2):c.626C>T (p.Thr209Ile) rs781131295
NM_001282225.2(ADA2):c.79G>A (p.Ala27Thr) rs766768505

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