ClinVar Miner

List of variants studied 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 by Fulgent Genetics, Fulgent Genetics

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_013382.7(POMT2):c.293A>G (p.Asn98Ser) rs368034790 0.00022
NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys) rs200198778 0.00010
NM_013382.7(POMT2):c.1978G>T (p.Val660Phe) rs200690151 0.00009
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.881A>G (p.Tyr294Cys) rs587780423 0.00002
NM_013382.7(POMT2):c.1238G>C (p.Arg413Pro) rs190285831 0.00001
NM_013382.7(POMT2):c.1912C>T (p.Arg638Ter) rs119463989 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
NM_013382.7(POMT2):c.1006+1G>T
NM_013382.7(POMT2):c.1051del (p.Ala351fs)
NM_013382.7(POMT2):c.1123_1124dup (p.Tyr376fs) rs886042401
NM_013382.7(POMT2):c.1162A>T (p.Lys388Ter)
NM_013382.7(POMT2):c.1184-1G>C
NM_013382.7(POMT2):c.1293dup (p.Met432fs) rs1555352706
NM_013382.7(POMT2):c.1341_1342del (p.Asp449fs)
NM_013382.7(POMT2):c.1491G>A (p.Trp497Ter)
NM_013382.7(POMT2):c.1623del (p.Leu542fs)
NM_013382.7(POMT2):c.1653+1G>T
NM_013382.7(POMT2):c.1726-1dup rs1229291913
NM_013382.7(POMT2):c.1781A>G (p.Asn594Ser)
NM_013382.7(POMT2):c.1958C>T (p.Pro653Leu) rs794727228
NM_013382.7(POMT2):c.2085G>A (p.Trp695Ter)
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.672del (p.Trp225fs) rs1566656247
NM_013382.7(POMT2):c.678G>A (p.Trp226Ter) rs778947923
NM_013382.7(POMT2):c.816+1G>T
NM_013382.7(POMT2):c.924-2A>C rs886044256

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