ClinVar Miner

List of variants in gene LOC129992585, SGCB studied for autosomal recessive limb-girdle muscular dystrophy type 2E

Included ClinVar conditions (1):
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Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_000232.5(SGCB):c.31C>G (p.Gln11Glu) rs752492870 0.00023
NM_000232.5(SGCB):c.18G>A (p.Ala6=) rs998759536 0.00014
NM_000232.5(SGCB):c.33+10T>C rs1040348203 0.00011
NM_000232.5(SGCB):c.31C>T (p.Gln11Ter) rs752492870 0.00007
NM_000232.5(SGCB):c.29A>G (p.Glu10Gly) rs1452778513 0.00006
NM_000232.5(SGCB):c.1_2del (p.Met1fs) rs886042503 0.00004
NM_000232.5(SGCB):c.33+16C>A rs765157791 0.00004
NM_000232.5(SGCB):c.27A>C (p.Ala9=) rs1170618819 0.00003
NM_000232.5(SGCB):c.14C>A (p.Ala5Glu) rs886158091 0.00002
NM_000232.5(SGCB):c.1A>G (p.Met1Val) rs398123262 0.00001
NM_000232.5(SGCB):c.33+1G>C rs1553940957 0.00001
NM_000232.5(SGCB):c.33+8A>G rs1476524603 0.00001
NM_000232.5(SGCB):c.9A>G (p.Ala3=) rs886043810 0.00001
NC_000004.12:g.(?_52038207)_(52038279_?)del
NM_000232.5(SGCB):c.-10_10dup (p.Ala4fs)
NM_000232.5(SGCB):c.-10_13del (p.Met1fs) rs2109380910
NM_000232.5(SGCB):c.-10_16dup (p.Ala6fs)
NM_000232.5(SGCB):c.-10_19dup (p.Ala7fs)
NM_000232.5(SGCB):c.-10_22dup (p.Ala8fs) rs1553940963
NM_000232.5(SGCB):c.-12_23dup (p.Ala9fs)
NM_000232.5(SGCB):c.-12_8dup (p.Ala4fs) rs1207685911
NM_000232.5(SGCB):c.-15_8del (p.Met1fs) rs1057517205
NM_000232.5(SGCB):c.-15_8dup (p.Ala5fs)
NM_000232.5(SGCB):c.-18_8dup (p.Ala6fs) rs2109380938
NM_000232.5(SGCB):c.-8_8dup (p.Ala4fs)
NM_000232.5(SGCB):c.10G>C (p.Ala4Pro)
NM_000232.5(SGCB):c.11C>T (p.Ala4Val)
NM_000232.5(SGCB):c.12G>A (p.Ala4=)
NM_000232.5(SGCB):c.12G>C (p.Ala4=) rs758245081
NM_000232.5(SGCB):c.12G>T (p.Ala4=) rs758245081
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.14C>T (p.Ala5Val) rs886158091
NM_000232.5(SGCB):c.15G>A (p.Ala5=)
NM_000232.5(SGCB):c.17C>T (p.Ala6Val) rs1414363052
NM_000232.5(SGCB):c.19G>A (p.Ala7Thr)
NM_000232.5(SGCB):c.21G>A (p.Ala7=)
NM_000232.5(SGCB):c.24T>C (p.Ala8=) rs2109380841
NM_000232.5(SGCB):c.26C>T (p.Ala9Val)
NM_000232.5(SGCB):c.27A>G (p.Ala9=)
NM_000232.5(SGCB):c.28G>T (p.Glu10Ter) rs1448040082
NM_000232.5(SGCB):c.29_33del (p.Glu10fs) rs1057517064
NM_000232.5(SGCB):c.2T>C (p.Met1Thr) rs1737457235
NM_000232.5(SGCB):c.30del (p.Glu10fs) rs2109380824
NM_000232.5(SGCB):c.32A>G (p.Gln11Arg) rs2109380807
NM_000232.5(SGCB):c.32dup (p.Gln12fs) rs796065319
NM_000232.5(SGCB):c.33+11A>G
NM_000232.5(SGCB):c.33+12C>A
NM_000232.5(SGCB):c.33+12C>T
NM_000232.5(SGCB):c.33+13C>A
NM_000232.5(SGCB):c.33+13C>G
NM_000232.5(SGCB):c.33+13C>T
NM_000232.5(SGCB):c.33+15C>T
NM_000232.5(SGCB):c.33+16C>T rs765157791
NM_000232.5(SGCB):c.33+17G>C
NM_000232.5(SGCB):c.33+18C>T
NM_000232.5(SGCB):c.33+1G>A rs1553940957
NM_000232.5(SGCB):c.33+2T>A rs2109380796
NM_000232.5(SGCB):c.33+3C>G
NM_000232.5(SGCB):c.33+4T>C
NM_000232.5(SGCB):c.33+7G>A rs2109380783
NM_000232.5(SGCB):c.33+9G>C rs886043257
NM_000232.5(SGCB):c.3G>T (p.Met1Ile) rs2109380946
NM_000232.5(SGCB):c.5C>T (p.Ala2Val)
NM_000232.5(SGCB):c.6G>A (p.Ala2=)
NM_000232.5(SGCB):c.6G>C (p.Ala2=)
NM_000232.5(SGCB):c.6G>T (p.Ala2=)
NM_000232.5(SGCB):c.8C>A (p.Ala3Glu) rs1578130059
NM_000232.5(SGCB):c.9A>T (p.Ala3=)
NM_000232.5(SGCB):c.9_14dup (p.Ala8_Ala9dup) rs886044103
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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