ClinVar Miner

List of variants studied for partial deletion of the long arm of chromosome 7

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_000501.4(ELN):c.2086+5G>C rs111866046 0.02303
NM_032951.3(MLXIPL):c.1096T>C (p.Leu366=) rs190197045 0.00595
NM_032951.3(MLXIPL):c.1537G>A (p.Ala513Thr) rs200391124 0.00214
NM_000501.4(ELN):c.1358-199G>A rs781963901 0.00034
NM_000501.4(ELN):c.647G>T (p.Gly216Val) rs145612009 0.00034
NM_000501.4(ELN):c.1909G>A (p.Ala637Thr) rs536177240 0.00026
NM_000501.4(ELN):c.1373C>A (p.Ala458Glu) rs149117932 0.00021
NM_000501.4(ELN):c.381G>A (p.Ala127=) rs148216123 0.00019
NM_000501.4(ELN):c.249C>T (p.Pro83=) rs565001805 0.00016
NM_000501.4(ELN):c.1675G>A (p.Val559Ile) rs560081099 0.00015
NM_000501.4(ELN):c.35G>T (p.Gly12Val) rs367634266 0.00012
NM_000501.4(ELN):c.202G>A (p.Gly68Arg) rs372566075 0.00011
NM_000501.4(ELN):c.403G>A (p.Gly135Arg) rs373650953 0.00007
NM_000501.4(ELN):c.1543G>A (p.Val515Met) rs376258672 0.00006
NM_000501.4(ELN):c.1363G>A (p.Gly455Arg) rs782260475 0.00004
NM_000501.4(ELN):c.92G>A (p.Gly31Glu) rs782625771 0.00004
NM_000501.4(ELN):c.1943G>A (p.Gly648Glu) rs140085632 0.00003
NM_000501.4(ELN):c.1150G>A (p.Gly384Arg) rs782359367 0.00001
NM_000501.4(ELN):c.134-16T>C rs782791376 0.00001
NM_000501.4(ELN):c.893T>C (p.Val298Ala) rs782205353 0.00001
GRCh37/hg19 7q11.22-11.23(chr7:71847968-73391310)
GRCh37/hg19 7q11.23(chr7:72589195-74225562)
GRCh37/hg19 7q11.23(chr7:72589515-74629034)
GRCh37/hg19 7q11.23(chr7:72645013-74142190)
GRCh37/hg19 7q11.23(chr7:72700127-74142190)
GRCh37/hg19 7q11.23(chr7:72700942-74142190)
GRCh37/hg19 7q11.23(chr7:72700996-74142190)
GRCh37/hg19 7q11.23(chr7:72700996-74142256)
GRCh37/hg19 7q11.23(chr7:72701084-74142190)
GRCh37/hg19 7q11.23(chr7:72717345-74133310)x3
GRCh37/hg19 7q11.23(chr7:72717395-74173168)
GRCh37/hg19 7q11.23(chr7:72718123-74141784)
GRCh37/hg19 7q11.23(chr7:72718123-74142190)
GRCh37/hg19 7q11.23(chr7:72721449-73959106)
GRCh37/hg19 7q11.23(chr7:72744494-74339044)
GRCh37/hg19 7q11.23(chr7:72744494-76038818)
GRCh37/hg19 7q11.23(chr7:72772522-74133319)
GRCh37/hg19 7q11.23(chr7:72921550-74145628)
GRCh37/hg19 7q11.23(chr7:73475600-73478833)x1
GRCh38/hg38 7q11.23(chr7:73229597-74727852)
NC_000007.14:g.(75058300_?)_(?_79083658)del
NC_000007.14:g.(?_73303398)_(74735532_?)del
NC_000007.14:g.73304277_74727414del
NC_000007.14:g.73773313_74086695del
NM_000501.3(ELN):c.-70G>C rs537200597
NM_000501.4(ELN):c.1104_1105del (p.Ser369fs) rs1794880739
NM_000501.4(ELN):c.1149C>A (p.Tyr383Ter) rs199621188
NM_000501.4(ELN):c.1178_1201del (p.Gly393_Gly400del) rs781838239
NM_000501.4(ELN):c.1591_1592delinsTT (p.Ala531Phe) rs863223529
NM_000501.4(ELN):c.166del (p.Leu56fs) rs2131266202
NM_000501.4(ELN):c.583T>G (p.Phe195Val)
NM_032408.4(BAZ1B):c.760C>T (p.Arg254Ter) rs2116378500
Single allele

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