ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive limb-girdle muscular dystrophy type 2E by Natera, Inc.

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_000232.5(SGCB):c.943G>A (p.Gly315Arg) rs150395645 0.00041
NM_000232.5(SGCB):c.151C>T (p.Arg51Cys) rs144743676 0.00029
NM_000232.5(SGCB):c.496A>G (p.Ile166Val) rs138877636 0.00028
NM_000232.5(SGCB):c.794C>T (p.Thr265Ile) rs116214830 0.00025
NM_000232.5(SGCB):c.31C>G (p.Gln11Glu) rs752492870 0.00023
NM_000232.5(SGCB):c.392G>A (p.Arg131Gln) rs201439705 0.00013
NM_000232.5(SGCB):c.188A>G (p.Asn63Ser) rs377071680 0.00011
NM_000232.5(SGCB):c.152G>A (p.Arg51His) rs143751283 0.00010
NM_000232.5(SGCB):c.29A>G (p.Glu10Gly) rs1452778513 0.00006
NM_000232.5(SGCB):c.841G>A (p.Asp281Asn) rs374923265 0.00005
NM_000232.5(SGCB):c.715A>G (p.Ile239Val) rs868151547 0.00004
NM_000232.5(SGCB):c.785T>C (p.Met262Thr) rs201923065 0.00004
NM_000232.5(SGCB):c.838G>A (p.Gly280Ser) rs879945095 0.00004
NM_000232.5(SGCB):c.752C>T (p.Ala251Val) rs146111013 0.00003
NM_000232.5(SGCB):c.14C>A (p.Ala5Glu) rs886158091 0.00002
NM_000232.5(SGCB):c.251T>C (p.Leu84Pro) rs138367908 0.00002
NM_000232.5(SGCB):c.419A>G (p.Asn140Ser) rs775409967 0.00002
NM_000232.5(SGCB):c.835A>G (p.Ser279Gly) rs565410997 0.00002
NM_000232.5(SGCB):c.244A>G (p.Ile82Val) rs143106297 0.00001
NM_000232.5(SGCB):c.370A>G (p.Lys124Glu) rs760596229 0.00001
NM_000232.5(SGCB):c.502A>G (p.Met168Val) rs754465904 0.00001
NM_000232.5(SGCB):c.544A>C (p.Thr182Pro) rs751427686 0.00001
NM_000232.5(SGCB):c.556A>G (p.Thr186Ala) rs1451834188 0.00001
NM_000232.5(SGCB):c.613A>T (p.Thr205Ser) rs202114068 0.00001
NM_000232.5(SGCB):c.716T>C (p.Ile239Thr) rs759966387 0.00001
NM_000232.5(SGCB):c.112A>C (p.Ser38Arg) rs1456517729
NM_000232.5(SGCB):c.12GGC[5] (p.Ala9dup) rs768838951
NM_000232.5(SGCB):c.12GGC[6] (p.Ala8_Ala9dup) rs768838951
NM_000232.5(SGCB):c.17C>T (p.Ala6Val) rs1414363052
NM_000232.5(SGCB):c.361C>A (p.Pro121Thr) rs764749125
NM_000232.5(SGCB):c.368A>C (p.Tyr123Ser) rs398123263
NM_000232.5(SGCB):c.434T>C (p.Val145Ala) rs1446053409
NM_000232.5(SGCB):c.44A>G (p.Asn15Ser) rs1560568898
NM_000232.5(SGCB):c.698T>C (p.Phe233Ser) rs1578125133
NM_000232.5(SGCB):c.87_89del (p.Arg30del) rs780654411
NM_000232.5(SGCB):c.90G>A (p.Arg30=) rs11541942
NM_000232.5(SGCB):c.9_17dup (p.Ala7_Ala9dup) rs1410190129
NM_000232.5(SGCB):c.9_23dup (p.Ala5_Ala9dup) rs781364428

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