ClinVar Miner

List of variants reported as likely pathogenic for Autosomal recessive limb-girdle muscular dystrophy type 2A by Invitae

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_000070.3(CAPN3):c.2311G>A (p.Ala771Thr) rs886043191 0.00009
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys) rs149914792 0.00008
NM_000070.3(CAPN3):c.1202A>G (p.Tyr401Cys) rs371784007 0.00002
NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys) rs372438001 0.00001
NM_000070.3(CAPN3):c.2115+1G>A rs766917640 0.00001
NM_000070.3(CAPN3):c.2185-16A>G rs1339644598 0.00001
NC_000015.10:g.(?_42409283)_(42410015_?)del
NC_000015.9:g.(?_42614560)_(42676697_?)del
NC_000015.9:g.(?_42695919)_(42695985_?)dup
NM_000070.3(CAPN3):c.1115+2T>A rs1057524468
NM_000070.3(CAPN3):c.1115+2T>C rs1057524468
NM_000070.3(CAPN3):c.1193+1G>A
NM_000070.3(CAPN3):c.1194-2del rs2141193533
NM_000070.3(CAPN3):c.1202A>T (p.Tyr401Phe) rs371784007
NM_000070.3(CAPN3):c.1309C>G (p.Arg437Gly)
NM_000070.3(CAPN3):c.134C>T (p.Ala45Val)
NM_000070.3(CAPN3):c.1354+1G>A
NM_000070.3(CAPN3):c.1395GGA[2] (p.Glu467del) rs746075428
NM_000070.3(CAPN3):c.1439T>A (p.Phe480Tyr) rs1555422111
NM_000070.3(CAPN3):c.1525-1G>T rs2053889963
NM_000070.3(CAPN3):c.1525-2A>G
NM_000070.3(CAPN3):c.1525G>T (p.Val509Phe) rs1409503203
NM_000070.3(CAPN3):c.1536+3A>G
NM_000070.3(CAPN3):c.1742C>G (p.Ser581Cys)
NM_000070.3(CAPN3):c.1782+2T>C rs754930571
NM_000070.3(CAPN3):c.1783-5_1784del
NM_000070.3(CAPN3):c.1914+2T>C rs1555422856
NM_000070.3(CAPN3):c.2112_2115+2del
NM_000070.3(CAPN3):c.2115+1_2115+2dup rs760919949
NM_000070.3(CAPN3):c.2116-1G>C
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp) rs770894443
NM_000070.3(CAPN3):c.2440-1G>C rs886044052
NM_000070.3(CAPN3):c.379+1G>A
NM_000070.3(CAPN3):c.379+3A>T rs1164215001
NM_000070.3(CAPN3):c.380-8_395del rs1555420302
NM_000070.3(CAPN3):c.397G>A (p.Ala133Thr) rs946415346
NM_000070.3(CAPN3):c.413T>C (p.Leu138Pro)
NM_000070.3(CAPN3):c.632+1del rs1566975163
NM_000070.3(CAPN3):c.633-1G>A
NM_000070.3(CAPN3):c.641G>A (p.Gly214Asp) rs761430243
NM_000070.3(CAPN3):c.661G>A (p.Gly221Ser) rs1432632972
NM_000070.3(CAPN3):c.754A>G (p.Met252Val) rs2053483911
NM_000070.3(CAPN3):c.802-1G>A
NM_000070.3(CAPN3):c.802-2A>G rs2141170197
NM_000070.3(CAPN3):c.848T>C (p.Met283Thr) rs1555420765
NM_000070.3(CAPN3):c.945+1G>A
NM_000070.3(CAPN3):c.945+1G>T rs1375420170
NM_000070.3(CAPN3):c.956C>G (p.Pro319Arg)
NM_000070.3(CAPN3):c.985G>C (p.Gly329Arg) rs1085307995

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