ClinVar Miner

List of variants studied for Becker muscular dystrophy

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Total variants: 40
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HGVS dbSNP
BMD, IVS13, G-T, -1
DMD, 1-BP DEL, 10683C
GRCh37/hg19 Xp21.1(chrX:31792077-31893490)
GRCh37/hg19 Xp21.1(chrX:31853996-31855256)
NM_000109.4(DMD):c.1294G>A (p.Glu432Lys) rs189143447
NM_000109.4(DMD):c.1700T>C (p.Leu567Pro) rs370644567
NM_000109.4(DMD):c.2356+3A>C rs1569564916
NM_000109.4(DMD):c.3607G>T (p.Glu1203Ter) rs267606771
NM_000109.4(DMD):c.479C>A (p.Ala160Asp) rs128626236
NM_000109.4(DMD):c.5300_5301delinsGT (p.Lys1767Ser) rs1557303381
NM_000109.4(DMD):c.5465G>T (p.Arg1822Ile) rs369055628
NM_000109.4(DMD):c.606del (p.Lys203fs) rs1557047827
NM_000109.4(DMD):c.667T>A (p.Tyr223Asn) rs128626237
NM_000109.4(DMD):c.679C>A (p.Leu227Ile) rs200177107
NM_000109.4(DMD):c.70-1G>T rs863225016
NM_000109.4(DMD):c.8524-1G>C rs1569546198
NM_000109.4(DMD):c.9830_9839del (p.Met3277fs) rs398124105
NM_001005242.3(PKP2):c.1379-2019C>T rs149930872
NM_003098.2(SNTA1):c.620G>A (p.Arg207Gln) rs771180054
NM_004006.2(DMD):c.10108C>T (p.Arg3370Ter) rs104894787
NM_004006.2(DMD):c.10453dup (p.Leu3485Profs) rs886043375
NM_004006.2(DMD):c.1093C>T (p.Gln365Ter) rs794726993
NM_004006.2(DMD):c.1292G>A (p.Trp431Ter) rs1556875224
NM_004006.2(DMD):c.2669T>A (p.Leu890Ter) rs1557380616
NM_004006.2(DMD):c.2804-1G>T rs398123909
NM_004006.2(DMD):c.3295C>T (p.Gln1099Ter) rs398123935
NM_004006.2(DMD):c.3432+2036A>G rs182575709
NM_004006.2(DMD):c.6502G>T (p.Glu2168Ter) rs779739455
NM_004006.2(DMD):c.7096C>A (p.Gln2366Lys) rs1800275
NM_004006.2(DMD):c.7310-1G>A rs1556880354
NM_004006.2(DMD):c.9225-285A>G rs587776747
NM_004006.2(DMD):c.9G>A (p.Trp3Ter) rs398122853
NM_004006.3(DMD):c.1000T>A rs1280415176
NM_004006.3(DMD):c.10098AGA[1] (p.Glu3367del) rs886042840
NM_004006.3(DMD):c.10349G>T (p.Ser3450Ile)
NM_004006.3(DMD):c.1812+1G>A rs373286166
NM_004006.3(DMD):c.3940C>T (p.Arg1314Ter) rs5030730
NM_004006.3(DMD):c.8762A>G (p.His2921Arg) rs1800279
NM_004017.3(DMD):c.1019+737C>T rs104894791
Single allele

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