ClinVar Miner

List of variants in gene POMT2 reported as likely pathogenic for autosomal recessive limb-girdle muscular dystrophy type 2N

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_013382.7(POMT2):c.551C>T (p.Thr184Met) rs267606971 0.00003
NM_013382.7(POMT2):c.1006+5G>A rs587780422 0.00002
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp) rs727502855 0.00002
NM_013382.7(POMT2):c.248+5G>C rs587777816 0.00002
NM_013382.7(POMT2):c.796G>A (p.Gly266Arg) rs761773211 0.00002
NM_013382.7(POMT2):c.881A>G (p.Tyr294Cys) rs587780423 0.00002
NM_013382.7(POMT2):c.1238G>C (p.Arg413Pro) rs190285831 0.00001
NM_013382.7(POMT2):c.1253+1G>A rs1475161693 0.00001
NM_013382.7(POMT2):c.1485-2_1485-1del rs1185491348 0.00001
NM_013382.5(POMT2):c.[1170_1171delTA];[1261C>T]
NM_013382.7(POMT2):c.1254-2A>G
NM_013382.7(POMT2):c.1329_1332+5del rs1566648219
NM_013382.7(POMT2):c.1484+1G>A
NM_013382.7(POMT2):c.1654-2A>T
NM_013382.7(POMT2):c.1726-1dup rs1229291913
NM_013382.7(POMT2):c.1738T>C (p.Ser580Pro) rs370529777
NM_013382.7(POMT2):c.1891+1G>C
NM_013382.7(POMT2):c.1891+2T>C rs1594884932
NM_013382.7(POMT2):c.1892-1G>C
NM_013382.7(POMT2):c.1958C>T (p.Pro653Leu) rs794727228
NM_013382.7(POMT2):c.2032+1G>A rs2140161850
NM_013382.7(POMT2):c.2159del (p.Phe720fs) rs1890013661
NM_013382.7(POMT2):c.2242T>C (p.Trp748Arg) rs267606964
NM_013382.7(POMT2):c.333+1G>T
NM_013382.7(POMT2):c.548-2A>G
NM_013382.7(POMT2):c.656+1G>A

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