ClinVar Miner

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

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ClinVar version:
Total variants: 95
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HGVS dbSNP gnomAD frequency
NM_213599.3(ANO5):c.1640G>A (p.Arg547Gln) rs139618850 0.00009
NM_001130987.2(DYSF):c.5420G>A (p.Arg1807Gln) rs148860301 0.00003
NM_001130987.2(DYSF):c.1380+2T>C rs398123765 0.00002
NM_000051.4(ATM):c.742C>T (p.Arg248Ter) rs730881336 0.00001
NM_000540.3(RYR1):c.9716T>A (p.Met3239Lys) rs371027185 0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098 0.00001
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu) rs137852973 0.00001
NM_001127222.2(CACNA1A):c.5032C>T (p.Arg1678Cys) rs121908243 0.00001
NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys) rs28937581 0.00001
NM_005476.7(GNE):c.165-8G>A rs918998080 0.00001
NM_005476.7(GNE):c.2135T>C (p.Met712Thr) rs28937594 0.00001
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter) rs762947018 0.00001
NM_020365.5(EIF2B3):c.89T>C (p.Val30Ala) rs752636698 0.00001
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)
GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3
GRCh37/hg19 10q26.13-26.3(chr10:123477898-135427143)
GRCh37/hg19 10q26.2-26.3(chr10:128289206-135427143)x1
GRCh37/hg19 11p15.5(chr11:268586-748873)
GRCh37/hg19 15q11.2(chr15:22770421-23195725)
GRCh37/hg19 15q11.2(chr15:22770421-23282799)
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398)
GRCh37/hg19 15q13.2-13.3(chr15:31073735-32446830)
GRCh37/hg19 15q24.1-24.2(chr15:72943184-76085232)
GRCh37/hg19 17q11.2-12(chr17:30572862-35843988)
GRCh37/hg19 17q25.1(chr17:72718277-74142256)
GRCh37/hg19 18q22.1-23(chr18:66057406-78014123)
GRCh37/hg19 1p36.33-36.31(chr1:1957148-6553454)
GRCh37/hg19 1q21.1(chr1:145382123-145792051)
GRCh37/hg19 22q11.21(chr22:18916842-20311810)
GRCh37/hg19 2p25.3(chr2:12770-2832894)x1
GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)
GRCh37/hg19 6q21-22.31(chr6:112713854-124105184)
GRCh37/hg19 7q11.23(chr7:72664461-74162586)
GRCh37/hg19 7q11.23(chr7:72718277-74142256)
GRCh37/hg19 8q24.13-24.21(chr8:124534271-129054138)x4
GRCh37/hg19 8q24.21-24.3(chr8:131138343-143473913)
NC_000011.10:g.108151767_108183227del
NM_000070.3(CAPN3):c.1118G>A (p.Trp373Ter) rs1555421523
NM_000070.3(CAPN3):c.1795dup (p.Thr599fs) rs80338803
NM_000117.3(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_000257.4(MYH7):c.1495GAG[1] (p.Glu500del) rs1555338254
NM_000304.4(PMP22):c.281del (p.Gly94fs) rs80338763
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.8(PTEN):c.794T>C (p.Leu265Pro) rs1335033900
NM_000382.3(ALDH3A2):c.1291_1292del (p.Lys431fs) rs781059624
NM_000382.3(ALDH3A2):c.1309A>T (p.Lys437Ter) rs1567607328
NM_000540.3(RYR1):c.4496_4497del (p.Phe1499fs) rs1568476203
NM_000721.4(CACNA1E):c.6529C>T (p.Gln2177Ter)
NM_001005273.3(CHD3):c.3431A>T (p.Asn1144Ile)
NM_001083961.2(WDR62):c.1684C>G (p.His562Asp) rs1379578836
NM_001083961.2(WDR62):c.883-4_890del rs1568334868
NM_001100.4(ACTA1):c.739G>C (p.Gly247Arg) rs1057521117
NM_001127222.2(CACNA1A):c.3843C>G (p.Tyr1281Ter) rs774224202
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) rs121908247
NM_001130987.2(DYSF):c.875C>G (p.Pro292Arg) rs1559053603
NM_001170629.2(CHD8):c.3623G>T (p.Cys1208Phe)
NM_001267550.2(TTN):c.29963-1G>C rs1560513651
NM_001267550.2(TTN):c.92812dup (p.Arg30938fs) rs1559173391
NM_001371279.1(REEP1):c.791del (p.Pro264fs) rs1558863350
NM_001429.4(EP300):c.5961_5962del (p.Gly1988fs)
NM_001904.4(CTNNB1):c.81dup (p.Gln28fs)
NM_001927.4(DES):c.1043A>C (p.Gln348Pro) rs1411703397
NM_001927.4(DES):c.1255C>T (p.Pro419Ser) rs62635763
NM_003106.4(SOX2):c.310G>T (p.Glu104Ter) rs1260218988
NM_004006.3(DMD):c.1652G>A (p.Trp551Ter) rs1569230215
NM_004006.3(DMD):c.9563+1G>A rs886043989
NM_004380.3(CREBBP):c.3292del (p.Thr1097_Leu1098insTer) rs1596856390
NM_004380.3(CREBBP):c.6587_6588dup (p.Leu2197fs)
NM_005476.7(GNE):c.38G>C (p.Cys13Ser) rs1209266607
NM_012330.4(KAT6B):c.4911_4921del (p.Val1638fs) rs199470480
NM_014363.6(SACS):c.11101T>C (p.Trp3701Arg) rs773588375
NM_014874.4(MFN2):c.1090C>T (p.Arg364Trp) rs119103265
NM_014946.4(SPAST):c.1253_1255del (p.Glu418del) rs1558336544
NM_014946.4(SPAST):c.1307C>T (p.Ser436Phe) rs1553318184
NM_015335.5(MED13L):c.5005G>A (p.Asp1669Asn)
NM_016312.3(WBP11):c.1521dup (p.Arg508fs)
NM_017780.4(CHD7):c.5405-7G>A rs398124321
NM_020297.4(ABCC9):c.3346C>T (p.Arg1116Cys) rs387907228
NM_020365.5(EIF2B3):c.706C>G (p.Gln236Glu) rs1557668795
NM_022455.5(NSD1):c.1492C>T (p.Arg498Ter) rs1581315609
NM_022455.5(NSD1):c.2645C>G (p.Ser882Ter) rs2149845949
NM_022489.4(INF2):c.311G>A (p.Cys104Tyr) rs387907035
NM_022552.5(DNMT3A):c.1012_1014+3del
NM_022552.5(DNMT3A):c.1258A>T (p.Lys420Ter)
NM_022552.5(DNMT3A):c.1279G>T (p.Glu427Ter)
NM_025137.4(SPG11):c.3291+1G>T rs312262753
NM_025137.4(SPG11):c.5410_5411del (p.Cys1804fs) rs312262766
NM_030632.3(ASXL3):c.1628_1629del (p.Leu543fs)
NM_152564.5(VPS13B):c.5734_5735del (p.Ile1912fs) rs386834098
NM_170707.4(LMNA):c.1412G>C (p.Arg471Pro) rs267607578
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp) rs121912496
NM_213599.3(ANO5):c.1158del (p.Phe386fs) rs1564936489

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