ClinVar Miner

List of variants reported as benign for autosomal recessive limb-girdle muscular dystrophy type 2A by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr) rs1801449 0.23274
NM_000070.3(CAPN3):c.96T>C (p.Thr32=) rs1801496 0.09551
NM_000070.3(CAPN3):c.606T>C (p.Ser202=) rs17593 0.05293
NM_000070.3(CAPN3):c.2380+12del rs28364538 0.04623
NM_000070.3(CAPN3):c.1029+3A>G rs28364442 0.03285
NM_000070.3(CAPN3):c.78G>A (p.Pro26=) rs62642519 0.01774
NM_000070.3(CAPN3):c.1355-6G>A rs28364485 0.01593
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly) rs17592 0.01574
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu) rs28364364 0.01193
NM_000070.3(CAPN3):c.2433T>C (p.Val811=) rs28364543 0.01154
NM_000070.3(CAPN3):c.1116-5A>G rs28364467 0.01144
NM_000070.3(CAPN3):c.551C>T (p.Thr184Met) rs35889956 0.01026
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625 0.00908
NM_000070.3(CAPN3):c.73C>T (p.His25Tyr) rs61735534 0.00885
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys) rs1801505 0.00719
NM_000070.3(CAPN3):c.939G>A (p.Pro313=) rs78369269 0.00698
NM_000070.3(CAPN3):c.495C>T (p.Phe165=) rs1801324 0.00613
NM_000070.3(CAPN3):c.984C>T (p.Cys328=) rs28364441 0.00600
NM_000070.3(CAPN3):c.2381-12A>G rs73402734 0.00578
NM_000070.3(CAPN3):c.318C>T (p.Cys106=) rs117609395 0.00495
NM_000070.3(CAPN3):c.1746-20C>G rs201892814 0.00320
NM_000070.3(CAPN3):c.930T>C (p.Asp310=) rs150356488 0.00259
NM_000070.3(CAPN3):c.2264-11C>T rs28364537 0.00195
NM_000070.3(CAPN3):c.1350C>T (p.Phe450=) rs144944366 0.00167
NM_000070.3(CAPN3):c.1643G>A (p.Arg548His) rs146309264 0.00039
NM_000070.3(CAPN3):c.310-20A>C rs537236363 0.00027
NM_000070.3(CAPN3):c.1017G>A (p.Thr339=) rs141934227 0.00006
NM_000070.3(CAPN3):c.1437C>T (p.Ser479=) rs147914333 0.00005
NM_000070.3(CAPN3):c.309+12C>T rs200773265 0.00004
NM_000070.3(CAPN3):c.499-18C>T rs144299553 0.00004
NM_000070.3(CAPN3):c.1354+24dup
NM_000070.3(CAPN3):c.1915-12G>A
NM_000070.3(CAPN3):c.2051-3C>A rs201294691
NM_000070.3(CAPN3):c.2051-3del rs781378527
NM_000070.3(CAPN3):c.2263+18del
NM_000070.3(CAPN3):c.2440-10CTT[3]

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