ClinVar Miner

List of variants reported as likely benign for Autosomal recessive limb-girdle muscular dystrophy type 2W

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 109
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HGVS dbSNP gnomAD frequency
NM_001161403.3(LIMS2):c.36C>T (p.Asn12=) rs150714487 0.00067
NM_001161403.3(LIMS2):c.882C>A (p.Asn294Lys) rs149101001 0.00038
NM_001161403.3(LIMS2):c.153C>T (p.Pro51=) rs144872986 0.00034
NM_001161403.3(LIMS2):c.11+1328G>A rs368890874 0.00031
NM_001161403.3(LIMS2):c.11+1326T>C rs371665020 0.00021
NM_001161403.3(LIMS2):c.11+1274A>G rs746982868 0.00014
NM_001161403.3(LIMS2):c.95A>G (p.Asn32Ser) rs764187109 0.00014
NM_001161403.3(LIMS2):c.359+11C>T rs140921135 0.00010
NM_001161403.3(LIMS2):c.661-15C>T rs574749512 0.00009
NM_001161403.3(LIMS2):c.759C>T (p.Phe253=) rs370106270 0.00009
NM_001161403.3(LIMS2):c.11+1304C>T rs909176511 0.00008
NM_001161403.3(LIMS2):c.753+8C>T rs201334941 0.00008
NM_001161403.3(LIMS2):c.12-6755G>A rs529824211 0.00007
NM_001161403.3(LIMS2):c.192C>T (p.Cys64=) rs142079668 0.00005
NM_001161403.3(LIMS2):c.582C>T (p.Gly194=) rs766876564 0.00005
NM_001161403.3(LIMS2):c.198C>T (p.His66=) rs371757451 0.00004
NM_001161403.3(LIMS2):c.468C>T (p.Ser156=) rs772862811 0.00004
NM_001161403.3(LIMS2):c.510-13C>T rs368236220 0.00004
NM_001161403.3(LIMS2):c.636G>A (p.Ala212=) rs539730681 0.00004
NM_001161403.3(LIMS2):c.354C>T (p.Ala118=) rs201972427 0.00003
NM_001161403.3(LIMS2):c.754-10C>T rs377539811 0.00003
NM_001161403.3(LIMS2):c.897C>T (p.Phe299=) rs375582487 0.00003
NM_001161403.3(LIMS2):c.171+14dup rs1272057458 0.00002
NM_001161403.3(LIMS2):c.238+9G>A rs767238091 0.00002
NM_001161403.3(LIMS2):c.509+15C>T rs749682980 0.00002
NM_001161403.3(LIMS2):c.509+8C>T rs775246782 0.00002
NM_001161403.3(LIMS2):c.802+7C>A rs748150053 0.00002
NM_001161403.3(LIMS2):c.939G>A (p.Pro313=) rs773583305 0.00002
NM_001161403.3(LIMS2):c.24C>T (p.Asp8=) rs755783718 0.00001
NM_001161403.3(LIMS2):c.325C>T (p.Leu109=) rs200845999 0.00001
NM_001161403.3(LIMS2):c.359+14G>A rs773360906 0.00001
NM_001161403.3(LIMS2):c.471C>T (p.Asp157=) rs761802077 0.00001
NM_001161403.3(LIMS2):c.661-18C>T rs376092968 0.00001
NM_001161403.3(LIMS2):c.753+9G>A rs200874584 0.00001
NM_001161403.3(LIMS2):c.754-13G>A rs752006518 0.00001
NM_001161403.3(LIMS2):c.75C>T (p.Ala25=) rs199821222 0.00001
NM_001161403.3(LIMS2):c.802+9_802+10del rs749417172 0.00001
NM_001161403.3(LIMS2):c.1020T>C (p.Ser340=)
NM_001161403.3(LIMS2):c.11+1267C>T
NM_001161403.3(LIMS2):c.11+12C>T
NM_001161403.3(LIMS2):c.11+1345G>A
NM_001161403.3(LIMS2):c.11+1349C>T
NM_001161403.3(LIMS2):c.11+1350G>A
NM_001161403.3(LIMS2):c.11+16C>A
NM_001161403.3(LIMS2):c.11+16C>T
NM_001161403.3(LIMS2):c.11+7G>T
NM_001161403.3(LIMS2):c.12-5C>T
NM_001161403.3(LIMS2):c.159G>C (p.Gly53=)
NM_001161403.3(LIMS2):c.171+17G>A
NM_001161403.3(LIMS2):c.171+9_171+13del
NM_001161403.3(LIMS2):c.172-11C>A
NM_001161403.3(LIMS2):c.172-11C>T
NM_001161403.3(LIMS2):c.172-13G>T
NM_001161403.3(LIMS2):c.172-5T>G
NM_001161403.3(LIMS2):c.172-9C>T
NM_001161403.3(LIMS2):c.222G>A (p.Pro74=)
NM_001161403.3(LIMS2):c.238+15A>G
NM_001161403.3(LIMS2):c.238+8C>A
NM_001161403.3(LIMS2):c.238+8C>T
NM_001161403.3(LIMS2):c.239-10C>G
NM_001161403.3(LIMS2):c.239-10C>T
NM_001161403.3(LIMS2):c.239-14C>T
NM_001161403.3(LIMS2):c.239-18G>T
NM_001161403.3(LIMS2):c.243G>A (p.Glu81=)
NM_001161403.3(LIMS2):c.249C>T (p.Ile83=) rs2105291996
NM_001161403.3(LIMS2):c.258C>T (p.Arg86=)
NM_001161403.3(LIMS2):c.261C>T (p.Val87=)
NM_001161403.3(LIMS2):c.288C>T (p.His96=)
NM_001161403.3(LIMS2):c.359+12G>A
NM_001161403.3(LIMS2):c.360-11G>A
NM_001161403.3(LIMS2):c.360-12C>T
NM_001161403.3(LIMS2):c.360-4G>T rs112254310
NM_001161403.3(LIMS2):c.360-5C>T
NM_001161403.3(LIMS2):c.408C>A (p.Gly136=)
NM_001161403.3(LIMS2):c.420C>T (p.Cys140=) rs2105208940
NM_001161403.3(LIMS2):c.444C>T (p.Asp148=)
NM_001161403.3(LIMS2):c.465G>A (p.Arg155=) rs563179688
NM_001161403.3(LIMS2):c.495C>T (p.Asn165=)
NM_001161403.3(LIMS2):c.509+12G>A
NM_001161403.3(LIMS2):c.510-11C>T
NM_001161403.3(LIMS2):c.510-19G>A
NM_001161403.3(LIMS2):c.525C>T (p.Ala175=) rs532651765
NM_001161403.3(LIMS2):c.528G>A (p.Glu176=)
NM_001161403.3(LIMS2):c.534C>A (p.Arg178=)
NM_001161403.3(LIMS2):c.534C>T (p.Arg178=)
NM_001161403.3(LIMS2):c.639G>A (p.Leu213=)
NM_001161403.3(LIMS2):c.661-17G>A
NM_001161403.3(LIMS2):c.661-19C>G
NM_001161403.3(LIMS2):c.661-4G>C
NM_001161403.3(LIMS2):c.661-7C>T
NM_001161403.3(LIMS2):c.687G>A (p.Lys229=)
NM_001161403.3(LIMS2):c.735C>T (p.Cys245=)
NM_001161403.3(LIMS2):c.754-10C>G rs377539811
NM_001161403.3(LIMS2):c.754-15C>A
NM_001161403.3(LIMS2):c.754-17G>A
NM_001161403.3(LIMS2):c.762G>A (p.Gly254=)
NM_001161403.3(LIMS2):c.802+13G>A
NM_001161403.3(LIMS2):c.802+18C>T
NM_001161403.3(LIMS2):c.802+7C>G
NM_001161403.3(LIMS2):c.803-13G>A
NM_001161403.3(LIMS2):c.803-5C>T
NM_001161403.3(LIMS2):c.810G>A (p.Ser270=) rs752693744
NM_001161403.3(LIMS2):c.878+17G>A
NM_001161403.3(LIMS2):c.879-8C>T rs760227021
NM_001161403.3(LIMS2):c.900C>T (p.Asp300=) rs1553460868
NM_001161403.3(LIMS2):c.909C>T (p.Pro303=) rs374378217
NM_001161403.3(LIMS2):c.927C>T (p.Tyr309=)
NM_001161403.3(LIMS2):c.946C>T (p.Leu316=)
NM_001161403.3(LIMS2):c.981C>A (p.Thr327=)

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