ClinVar Miner

List of variants reported as likely pathogenic for Miyoshi muscular dystrophy 1

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Total variants: 94
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HGVS dbSNP gnomAD frequency
NM_001130987.2(DYSF):c.2697+1G>A rs140108514 0.00046
NM_001130987.2(DYSF):c.3125C>T (p.Pro1042Leu) rs372880553 0.00024
NM_001130987.2(DYSF):c.4078C>T (p.Arg1360Trp) rs199870606 0.00010
NM_001130987.2(DYSF):c.3169C>T (p.Arg1057Trp) rs760443264 0.00004
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp) rs149827237 0.00004
NM_001130987.2(DYSF):c.5420G>A (p.Arg1807Gln) rs148860301 0.00003
NM_001130987.2(DYSF):c.1264G>A (p.Asp422Asn) rs886042389 0.00001
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg) rs201049092 0.00001
NM_001130987.2(DYSF):c.4387+2T>C rs759939755 0.00001
NM_001130987.2(DYSF):c.4631A>G (p.Tyr1544Cys) rs757820496 0.00001
NM_001130987.2(DYSF):c.5784+1G>A rs909564120 0.00001
NM_001130987.2(DYSF):c.5885-1G>C rs771257070 0.00001
NM_001130987.1(DYSF):c.3105dup(p.Ile1036Hisfs) rs756118312
NM_001130987.2(DYSF):c.1002+1G>A
NM_001130987.2(DYSF):c.1067C>G (p.Ser356Ter)
NM_001130987.2(DYSF):c.1192del (p.Ser398fs) rs2087887269
NM_001130987.2(DYSF):c.1261G>A (p.Glu421Lys) rs778673716
NM_001130987.2(DYSF):c.1264_1276+1dup
NM_001130987.2(DYSF):c.1272_1276+3dup
NM_001130987.2(DYSF):c.1274_1276+4dup rs768425085
NM_001130987.2(DYSF):c.1475_1477del (p.Arg492del) rs2152761340
NM_001130987.2(DYSF):c.1577-1655C>G rs886044410
NM_001130987.2(DYSF):c.1577-21_1586delinsGGCTT
NM_001130987.2(DYSF):c.1595del (p.Phe532fs)
NM_001130987.2(DYSF):c.1625del (p.Asn542fs) rs2152786967
NM_001130987.2(DYSF):c.1686del (p.Gly563fs)
NM_001130987.2(DYSF):c.1806+1G>T
NM_001130987.2(DYSF):c.1807-2A>G
NM_001130987.2(DYSF):c.1984+2T>A
NM_001130987.2(DYSF):c.2110-1G>A
NM_001130987.2(DYSF):c.2217-1G>A
NM_001130987.2(DYSF):c.2310dup (p.Glu771Ter)
NM_001130987.2(DYSF):c.2695A>C (p.Thr899Pro)
NM_001130987.2(DYSF):c.2807dup (p.Arg937fs)
NM_001130987.2(DYSF):c.2947del (p.Trp983fs)
NM_001130987.2(DYSF):c.2986G>T (p.Glu996Ter) rs2092340623
NM_001130987.2(DYSF):c.3091G>T (p.Glu1031Ter)
NM_001130987.2(DYSF):c.3157_3158del (p.Tyr1053fs)
NM_001130987.2(DYSF):c.3173_3177del (p.Arg1058fs)
NM_001130987.2(DYSF):c.3251dup (p.Glu1085fs) rs2152822956
NM_001130987.2(DYSF):c.3253G>T (p.Glu1085Ter) rs1252415299
NM_001130987.2(DYSF):c.3260G>A (p.Trp1087Ter)
NM_001130987.2(DYSF):c.3270_3282del (p.Ser1091fs)
NM_001130987.2(DYSF):c.3334T>C (p.Trp1112Arg)
NM_001130987.2(DYSF):c.3381_3382del (p.Phe1128fs) rs398123780
NM_001130987.2(DYSF):c.3666del (p.Phe1223fs)
NM_001130987.2(DYSF):c.3812del (p.Pro1271fs)
NM_001130987.2(DYSF):c.3842dup (p.Ser1282fs)
NM_001130987.2(DYSF):c.3894_3895dup (p.Lys1299fs)
NM_001130987.2(DYSF):c.3957+2T>G rs1553377764
NM_001130987.2(DYSF):c.4078C>G (p.Arg1360Gly)
NM_001130987.2(DYSF):c.410del (p.Pro137fs) rs886043342
NM_001130987.2(DYSF):c.4153C>T (p.Gln1385Ter) rs1574340403
NM_001130987.2(DYSF):c.431del (p.Pro144fs)
NM_001130987.2(DYSF):c.4328dup (p.Glu1444fs)
NM_001130987.2(DYSF):c.4379_4382del (p.Gly1460fs)
NM_001130987.2(DYSF):c.4528-2del
NM_001130987.2(DYSF):c.4556A>C (p.Lys1519Thr) rs398123788
NM_001130987.2(DYSF):c.4670del (p.Leu1557fs) rs1553408378
NM_001130987.2(DYSF):c.4755+1G>A
NM_001130987.2(DYSF):c.4911G>T (p.Lys1637Asn) rs141704244
NM_001130987.2(DYSF):c.4954del (p.Ser1652fs) rs772270346
NM_001130987.2(DYSF):c.5149T>C (p.Cys1717Arg)
NM_001130987.2(DYSF):c.5150G>C (p.Cys1717Ser) rs753279446
NM_001130987.2(DYSF):c.5161C>T (p.Gln1721Ter) rs758992291
NM_001130987.2(DYSF):c.5174+2T>C rs1553412826
NM_001130987.2(DYSF):c.5174+5G>A rs745891180
NM_001130987.2(DYSF):c.5200del (p.Gln1734fs) rs1558771348
NM_001130987.2(DYSF):c.5265_5280del (p.Val1754_Tyr1755insTer)
NM_001130987.2(DYSF):c.5311G>T (p.Glu1771Ter) rs762398889
NM_001130987.2(DYSF):c.5458-2A>G
NM_001130987.2(DYSF):c.5642+2T>A
NM_001130987.2(DYSF):c.5642_5642+12del
NM_001130987.2(DYSF):c.5711G>A (p.Gly1904Asp) rs1024524968
NM_001130987.2(DYSF):c.5785-1G>C rs751473506
NM_001130987.2(DYSF):c.5842C>T (p.Gln1948Ter) rs1573138313
NM_001130987.2(DYSF):c.5861del (p.Lys1954fs)
NM_001130987.2(DYSF):c.6019_6020insACACA (p.Trp2007fs)
NM_001130987.2(DYSF):c.6057dup (p.Leu2020fs) rs2152967906
NM_001130987.2(DYSF):c.6064-1G>C rs886042636
NM_001130987.2(DYSF):c.6155del (p.Pro2052fs)
NM_001130987.2(DYSF):c.6173+1G>A
NM_001130987.2(DYSF):c.6251G>A (p.Trp2084Ter) rs1553422709
NM_001130987.2(DYSF):c.641del (p.Ala214fs)
NM_001130987.2(DYSF):c.754_759+5del rs1433612344
NM_001130987.2(DYSF):c.760-2A>G
NM_001130987.2(DYSF):c.959dup (p.Asp320fs)
NM_001130987.2(DYSF):c.997_1002+1delinsAAAA
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs) rs727503909
NM_003494.3(DYSF):c.3383dup (p.Met1128Ilefs) rs1553370437
NM_003494.4(DYSF):c.1522+1G>A rs1473130799
NM_003494.4(DYSF):c.24T>G (p.Tyr8Ter) rs2080944539
NM_003494.4(DYSF):c.42_43del (p.Pro15fs)
NM_003494.4(DYSF):c.88+1G>A

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