ClinVar Miner

List of variants studied for Becker muscular dystrophy

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
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HGVS dbSNP
BMD, IVS13, G-T, -1
DMD, 1-BP DEL, 10683C
GRCh37/hg19 Xp21.1(chrX:31853996-31855256)
GRCh37/hg19 Xp21.1(chrX:33183494-33640512)x2
NC_000023.10:g.31947471_31972601dup
NM_003098.2(SNTA1):c.620G>A (p.Arg207Gln) rs771180054
NM_004006.2(DMD):c.1000T>A (p.Leu334Met) rs1280415176
NM_004006.2(DMD):c.10058A>C (p.His3353Pro) rs1569423551
NM_004006.2(DMD):c.10098_10100AGA[1] (p.Glu3367del) rs886042840
NM_004006.2(DMD):c.10108C>T (p.Arg3370Ter) rs104894787
NM_004006.2(DMD):c.10171C>T (p.Arg3391Ter) rs398123832
NM_004006.2(DMD):c.10247G>A (p.Trp3416Ter) rs201217593
NM_004006.2(DMD):c.10262C>T (p.Ala3421Val) rs104894791
NM_004006.2(DMD):c.10453dup (p.Leu3485Profs) rs886043375
NM_004006.2(DMD):c.1318G>A (p.Glu440Lys) rs189143447
NM_004006.2(DMD):c.1635A>G (p.Arg545=) rs5927083
NM_004006.2(DMD):c.1687C>T (p.Arg563Cys) rs145739725
NM_004006.2(DMD):c.1812+1G>A rs373286166
NM_004006.2(DMD):c.2330T>C (p.Leu777Pro) rs794727226
NM_004006.2(DMD):c.2380+3A>C rs1569564916
NM_004006.2(DMD):c.2645G>A (p.Gly882Asp) rs228406
NM_004006.2(DMD):c.2669T>A (p.Leu890Ter) rs1557380616
NM_004006.2(DMD):c.2912A>T (p.Asp971Val)
NM_004006.2(DMD):c.295A>G (p.Ile99Val) rs149428656
NM_004006.2(DMD):c.3151C>T (p.Arg1051Ter) rs398123929
NM_004006.2(DMD):c.3295C>T (p.Gln1099Ter) rs398123935
NM_004006.2(DMD):c.3344T>C (p.Ile1115Thr) rs748123444
NM_004006.2(DMD):c.3432+2036A>G rs182575709
NM_004006.2(DMD):c.3631G>T (p.Glu1211Ter) rs267606771
NM_004006.2(DMD):c.3940C>T (p.Arg1314Ter) rs5030730
NM_004006.2(DMD):c.4115C>T (p.Ala1372Val) rs759108067
NM_004006.2(DMD):c.503C>A (p.Ala168Asp) rs128626236
NM_004006.2(DMD):c.5324_5325delinsGT (p.Lys1775Ser) rs1557303381
NM_004006.2(DMD):c.5489G>T (p.Arg1830Ile) rs369055628
NM_004006.2(DMD):c.5869C>T (p.Arg1957Trp) rs755477994
NM_004006.2(DMD):c.630del (p.Lys211fs) rs1557047827
NM_004006.2(DMD):c.6409G>C (p.Glu2137Gln) rs1023328955
NM_004006.2(DMD):c.6463C>T (p.Arg2155Trp) rs1800273
NM_004006.2(DMD):c.6502G>T (p.Glu2168Ter) rs779739455
NM_004006.2(DMD):c.6839G>A (p.Ser2280Asn) rs1060502614
NM_004006.2(DMD):c.691T>A (p.Tyr231Asn) rs128626237
NM_004006.2(DMD):c.703C>A (p.Leu235Ile) rs200177107
NM_004006.2(DMD):c.7096C>A (p.Gln2366Lys) rs1800275
NM_004006.2(DMD):c.7183G>A (p.Ala2395Thr) rs72466590
NM_004006.2(DMD):c.7310-1G>A rs1556880354
NM_004006.2(DMD):c.7310-36C>T rs72466586
NM_004006.2(DMD):c.7728T>C (p.Asn2576=) rs1801188
NM_004006.2(DMD):c.837G>A (p.Thr279=) rs1800265
NM_004006.2(DMD):c.8548-1G>C rs1569546198
NM_004006.2(DMD):c.8713C>T (p.Arg2905Ter) rs128627256
NM_004006.2(DMD):c.8762A>G (p.His2921Arg) rs1800279
NM_004006.2(DMD):c.8810A>G (p.Gln2937Arg) rs1800280
NM_004006.2(DMD):c.9225-285A>G rs587776747
NM_004006.2(DMD):c.9352G>T (p.Ala3118Ser) rs200928985
NM_004006.2(DMD):c.94-1G>T rs863225016
NM_004006.2(DMD):c.9580A>C (p.Ile3194Leu) rs181517869
NM_004006.2(DMD):c.9854_9863del (p.Met3285fs) rs398124105
NM_004006.2(DMD):c.9G>A (p.Trp3Ter) rs398122853
NM_004572.3(PKP2):c.1468C>T (p.Arg490Trp) rs149930872
Single allele

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