ClinVar Miner

List of variants reported as 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 by Labcorp Genetics (formerly Invitae), Labcorp

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Minimum conflict level:
ClinVar version:
Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys) rs200198778 0.00010
NM_013382.7(POMT2):c.1006+1G>A rs533916138 0.00003
NM_013382.7(POMT2):c.1237C>T (p.Arg413Ter) rs773017813 0.00001
NM_013382.7(POMT2):c.1417C>T (p.Arg473Ter) rs368817785 0.00001
NM_013382.7(POMT2):c.1762C>T (p.Arg588Ter) rs766169193 0.00001
NM_013382.7(POMT2):c.248+1G>C rs961440747 0.00001
NM_013382.7(POMT2):c.639C>A (p.Tyr213Ter) rs764878423 0.00001
NM_013382.7(POMT2):c.958C>T (p.Gln320Ter) rs775932206 0.00001
NC_000014.8:g.(?_77743719)_(77772804_?)del
NC_000014.8:g.(?_77755085)_(77762636_?)del
NC_000014.8:g.(?_77757637)_(77757743_?)del
NM_013382.5(POMT2):c.1170_1171del rs764210532
NM_013382.7(POMT2):c.1034_1035del (p.Val345fs) rs1890825132
NM_013382.7(POMT2):c.1046_1052del (p.Arg349fs)
NM_013382.7(POMT2):c.1051del (p.Ala351fs)
NM_013382.7(POMT2):c.1123_1124dup (p.Tyr376fs) rs886042401
NM_013382.7(POMT2):c.1130T>A (p.Leu377Ter)
NM_013382.7(POMT2):c.1158dup (p.Ile387fs)
NM_013382.7(POMT2):c.118_119del (p.Arg40fs)
NM_013382.7(POMT2):c.1243G>T (p.Glu415Ter)
NM_013382.7(POMT2):c.127A>T (p.Lys43Ter)
NM_013382.7(POMT2):c.1293dup (p.Met432fs) rs1555352706
NM_013382.7(POMT2):c.1300del (p.Arg434fs) rs2140188352
NM_013382.7(POMT2):c.1311T>G (p.Tyr437Ter)
NM_013382.7(POMT2):c.1333-14G>A rs918556979
NM_013382.7(POMT2):c.139_145del (p.Trp47fs)
NM_013382.7(POMT2):c.1412_1413dup (p.Ser472fs)
NM_013382.7(POMT2):c.1413_1414del (p.Arg473fs)
NM_013382.7(POMT2):c.1495C>T (p.Gln499Ter)
NM_013382.7(POMT2):c.1555G>T (p.Glu519Ter) rs1379963762
NM_013382.7(POMT2):c.1577T>A (p.Leu526Ter)
NM_013382.7(POMT2):c.1658dup (p.Asn553fs) rs886043110
NM_013382.7(POMT2):c.1661del (p.Ser554fs)
NM_013382.7(POMT2):c.1712dup (p.Ile572fs) rs780725241
NM_013382.7(POMT2):c.1740_1741del (p.Val582fs)
NM_013382.7(POMT2):c.1754_1755del (p.Thr585fs) rs1555351894
NM_013382.7(POMT2):c.1768dup (p.Tyr590fs)
NM_013382.7(POMT2):c.1793G>A (p.Trp598Ter) rs1566644018
NM_013382.7(POMT2):c.1911_1912delinsGT (p.Arg638Ter)
NM_013382.7(POMT2):c.1927_1943del (p.Val643fs)
NM_013382.7(POMT2):c.1967del (p.Leu656fs)
NM_013382.7(POMT2):c.1981del (p.Leu661fs)
NM_013382.7(POMT2):c.2021dup (p.Ser674fs)
NM_013382.7(POMT2):c.2064T>A (p.Cys688Ter)
NM_013382.7(POMT2):c.2147+1G>A
NM_013382.7(POMT2):c.2197C>T (p.Gln733Ter) rs1452558347
NM_013382.7(POMT2):c.2197del (p.Gln733fs) rs1292248431
NM_013382.7(POMT2):c.227T>A (p.Leu76Ter)
NM_013382.7(POMT2):c.383del (p.Leu128fs)
NM_013382.7(POMT2):c.435_438dup (p.Phe147fs)
NM_013382.7(POMT2):c.524_533del (p.Leu175fs)
NM_013382.7(POMT2):c.648C>A (p.Cys216Ter) rs147871747
NM_013382.7(POMT2):c.672del (p.Trp225fs) rs1566656247
NM_013382.7(POMT2):c.673del (p.Trp225fs) rs1594796439
NM_013382.7(POMT2):c.678G>A (p.Trp226Ter) rs778947923
NM_013382.7(POMT2):c.678del (p.Trp226fs) rs755660222
NM_013382.7(POMT2):c.70dup (p.Gln24fs)
NM_013382.7(POMT2):c.786G>A (p.Trp262Ter)
NM_013382.7(POMT2):c.791del (p.Leu264fs) rs1891020302
NM_013382.7(POMT2):c.816+1G>T
NM_013382.7(POMT2):c.824_825del (p.Val275fs)
NM_013382.7(POMT2):c.879_880del (p.Thr295fs) rs752440109
NM_013382.7(POMT2):c.924-2A>C rs886044256
NM_013382.7(POMT2):c.924-2A>G rs886044256

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