ClinVar Miner

List of variants reported as pathogenic by Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea

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Total variants: 33
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HGVS dbSNP
NC_000011.10:g.108151767_108183227del
NM_000051.3(ATM):c.742C>T (p.Arg248Ter) rs730881336
NM_000070.3(CAPN3):c.1118G>A (p.Trp373Ter) rs1555421523
NM_000070.3(CAPN3):c.1795dup (p.Thr599fs) rs80338803
NM_000117.2(EMD):c.101dup (p.Tyr34Ter) rs1569552079
NM_000166.6(GJB1):c.394T>C (p.Trp132Arg) rs1569215263
NM_000166.6(GJB1):c.590C>T (p.Ala197Val) rs1569215418
NM_000304.4(PMP22):c.281del (p.Gly94fs) rs80338763
NM_000382.3(ALDH3A2):c.1291_1292del (p.Lys431fs)
NM_000382.3(ALDH3A2):c.1309A>T (p.Lys437Ter) rs1567607328
NM_000540.2(RYR1):c.4496_4497del (p.Phe1499fs) rs1568476203
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098
NM_001127221.1(CACNA1A):c.3846C>G (p.Tyr1282Ter) rs774224202
NM_001127221.1(CACNA1A):c.4991G>A (p.Arg1664Gln) rs121908247
NM_001127221.1(CACNA1A):c.5035C>T (p.Arg1679Cys) rs121908243
NM_001130987.2(DYSF):c.1380+2T>C rs398123765
NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys) rs28937581
NM_001267550.2(TTN):c.29963-1G>C rs1560513651
NM_001267550.2(TTN):c.92812dup (p.Arg30938fs) rs1559173391
NM_001927.4(DES):c.1043A>C (p.Gln348Pro) rs1411703397
NM_001927.4(DES):c.1255C>T (p.Pro419Ser) rs62635763
NM_004006.2(DMD):c.1652G>A (p.Trp551Ter) rs1569230215
NM_004006.2(DMD):c.9563+1G>A rs886043989
NM_005476.7(GNE):c.2135T>C (p.Met712Thr) rs28937594
NM_005476.7(GNE):c.38G>C (p.Cys13Ser) rs1209266607
NM_014874.3(MFN2):c.1090C>T (p.Arg364Trp) rs119103265
NM_014946.3(SPAST):c.1253_1255del (p.Glu418del) rs1558336544
NM_014946.3(SPAST):c.1307C>T (p.Ser436Phe) rs1553318184
NM_025137.4(SPG11):c.3291+1G>T rs312262753
NM_025137.4(SPG11):c.5408_5409TG[1] (p.Cys1804fs) rs312262766
NM_032667.6(BSCL2):c.269C>T (p.Ser90Leu) rs137852973
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp) rs121912496
NM_213599.2(ANO5):c.1158del (p.Phe386fs) rs1564936489

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