ClinVar Miner

List of variants reported by Advanced Center For Translational And Genetic Medicine, Ann & Robert H. Lurie Children's Hospital Of Chicago

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp) rs768933093 0.00005
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp) rs148374859 0.00004
NM_152384.3(BBS5):c.619-1G>C rs753234582 0.00004
NM_001379659.1(ZNF142):c.5098C>T (p.Arg1700Trp) rs367658234 0.00003
NM_152384.3(BBS5):c.226A>G (p.Ile76Val) rs763696357 0.00002
NM_001379659.1(ZNF142):c.3775C>T (p.Arg1259Ter) rs546151500 0.00001
NM_001379659.1(ZNF142):c.4298G>T (p.Cys1433Phe) rs1275959058 0.00001
NM_015662.3(IFT172):c.1715G>A (p.Arg572Gln) rs764302265 0.00001
NM_024685.4(BBS10):c.1804G>C (p.Val602Leu) rs778431173 0.00001
NM_033028.5(BBS4):c.1091C>A (p.Ala364Glu) rs28938468 0.00001
NM_033028.5(BBS4):c.332+8T>C rs1456405256 0.00001
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter) rs121918327 0.00001
GRCh37/hg19 11q13.2(chr11:66274870-66292647)x1
GRCh37/hg19 11q13.2(chr11:66290130-66305022)
GRCh37/hg19 15q24.1(chr15:73000552-73006857)x1
GRCh37/hg19 2p13.1(chr2:73617393-73789869)
GRCh37/hg19 2q13(chr2:110875689-110967529)
GRCh38/hg38 11q13.2(chr11:66507369-66525103)
GRCh38/hg38 11q13.2(chr11:66520912-66526178)
GRCh38/hg38 11q13.2(chr11:66528892-66536798)
GRCh38/hg38 15q24.1(chr15:72708224-72714485)
GRCh38/hg38 15q24.1(chr15:72714229-72721948)
GRCh38/hg38 15q24.1(chr15:72714243-72720447)
GRCh38/hg38 16q13(chr16:56496014-56504285)
GRCh38/hg38 2q31.1(chr2:169498679-169508441)
GRCh38/hg38 3q11.2(chr3:97779512-97864516)
GRCh38/hg38 3q11.2(chr3:97790061-97794169)
GRCh38/hg38 9p21.2(chr9:27040565-27060992)
NC_000001.10:g.[5910699_6038368dup;6051187_6158763dup]
NM_001105537.3(ZNF142):c.[4183delC;4185G>A]
NM_001128178.3(NPHP1):c.1462A>G (p.Met488Val) rs373953762
NM_001379659.1(ZNF142):c.1417_1418del (p.Lys473fs) rs1447313633
NM_001379659.1(ZNF142):c.1892del (p.Cys631fs) rs1559296368
NM_020843.4(SCAPER):c.3293G>A (p.Arg1098Gln)
NM_031885.5(BBS2):c.1528G>T (p.Val510Phe)
NM_152618.3(BBS12):c.1392_1395del (p.Cys464fs) rs2150737232
NM_152618.3(BBS12):c.1685del (p.Asn562fs)
NM_176824.3(BBS7):c.1677-490_1804del rs1578522416
NM_176824.3(BBS7):c.68T>G (p.Leu23Arg) rs1727380420
NM_176824.3(BBS7):c.712_715del (p.Arg238fs) rs760165634
t(5;16)(p15.31;q23.1)

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