ClinVar Miner

List of variants reported as likely pathogenic for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N

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Total variants: 47
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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.1261C>T (p.Arg421Trp) rs727502855 0.00002
NM_013382.7(POMT2):c.248+5G>C rs587777816 0.00002
NM_013382.7(POMT2):c.320C>T (p.Pro107Leu) rs398124264 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_013382.7(POMT2):c.2176G>A (p.Gly726Arg) rs1471500386 0.00001
NM_013382.7(POMT2):c.685C>T (p.Leu229Phe) rs754512099 0.00001
NM_013382.7(POMT2):c.958C>T (p.Gln320Ter) rs775932206 0.00001
NC_000014.8:g.(?_77757660)_(77763722_?)del
NM_013382.7(POMT2):c.1006+1G>T
NM_013382.7(POMT2):c.1162A>T (p.Lys388Ter)
NM_013382.7(POMT2):c.1184-1G>C
NM_013382.7(POMT2):c.1254-2A>G
NM_013382.7(POMT2):c.1293dup (p.Met432fs) rs1555352706
NM_013382.7(POMT2):c.1329_1332+5del rs1566648219
NM_013382.7(POMT2):c.1341_1342del (p.Asp449fs)
NM_013382.7(POMT2):c.1484+1G>A
NM_013382.7(POMT2):c.1623del (p.Leu542fs)
NM_013382.7(POMT2):c.1653+1G>T
NM_013382.7(POMT2):c.1654-2A>T
NM_013382.7(POMT2):c.1781A>G (p.Asn594Ser)
NM_013382.7(POMT2):c.1861_1879del (p.Gly622fs)
NM_013382.7(POMT2):c.1891+1G>A
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.2085G>A (p.Trp695Ter)
NM_013382.7(POMT2):c.2159del (p.Phe720fs) rs1890013661
NM_013382.7(POMT2):c.2174dup (p.Tyr725Ter)
NM_013382.7(POMT2):c.2206del (p.Gln736fs) rs774412117
NM_013382.7(POMT2):c.2242T>C (p.Trp748Arg) rs267606964
NM_013382.7(POMT2):c.248+1G>A
NM_013382.7(POMT2):c.287A>G (p.Tyr96Cys)
NM_013382.7(POMT2):c.333+1G>T
NM_013382.7(POMT2):c.353_354del (p.Gly118fs)
NM_013382.7(POMT2):c.548-2A>G
NM_013382.7(POMT2):c.604T>G (p.Phe202Val)
NM_013382.7(POMT2):c.656+1G>A
NM_013382.7(POMT2):c.672del (p.Trp225fs) rs1566656247
NM_013382.7(POMT2):c.678G>A (p.Trp226Ter) rs778947923
NM_013382.7(POMT2):c.816+1G>T

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