ClinVar Miner

List of variants in gene ESPN studied for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_031475.3(ESPN):c.1476T>C (p.Cys492=) rs77656032 0.22371
NM_031475.3(ESPN):c.1636C>T (p.Arg546Cys) rs138198721 0.21005
NM_031475.3(ESPN):c.909C>G (p.Arg303=) rs2311045 0.16572
NM_031475.3(ESPN):c.1069C>T (p.Pro357Ser) rs116413227 0.00941
NM_031475.3(ESPN):c.1286C>T (p.Thr429Ile) rs139266211 0.00531
NM_031475.3(ESPN):c.2070G>A (p.Ser690=) rs142850918 0.00511
NM_031475.3(ESPN):c.706C>G (p.Gln236Glu) rs6678405 0.00483
NM_031475.3(ESPN):c.1104T>G (p.Phe368Leu) rs142638391 0.00418
NM_031475.3(ESPN):c.1950C>T (p.Gly650=) rs116163286 0.00138
NM_031475.3(ESPN):c.1193-3C>T rs201999263 0.00115
NM_031475.3(ESPN):c.1048C>T (p.Pro350Ser) rs115143295 0.00081
NM_031475.3(ESPN):c.337C>T (p.Arg113Cys) rs143577178 0.00024
NM_031475.3(ESPN):c.2504G>A (p.Ser835Asn) rs727503039 0.00018
NM_031475.3(ESPN):c.2061+7G>A rs369405672 0.00016
NM_031475.3(ESPN):c.2215C>G (p.Leu739Val) rs368795540 0.00016
NM_031475.3(ESPN):c.*6G>A rs200806495 0.00014
NM_031475.3(ESPN):c.1025C>T (p.Ser342Phe) rs199502924 0.00009
NM_031475.3(ESPN):c.1080G>A (p.Thr360=) rs373242735 0.00006
NM_031475.3(ESPN):c.1094C>T (p.Pro365Leu) rs201251427 0.00006
NM_031475.3(ESPN):c.1016G>A (p.Arg339Gln) rs148390614 0.00005
NM_031475.3(ESPN):c.2027C>G (p.Thr676Arg) rs771737095 0.00005
NM_031475.3(ESPN):c.1947G>A (p.Thr649=) rs377497281 0.00004
NM_031475.3(ESPN):c.2405+12G>A rs876657462 0.00003
NM_031475.3(ESPN):c.439G>A (p.Ala147Thr) rs727504727 0.00002
NM_031475.3(ESPN):c.2026A>G (p.Thr676Ala) rs727504842 0.00001
NM_031475.3(ESPN):c.2120C>T (p.Pro707Leu) rs576917953 0.00001
NM_031475.3(ESPN):c.2552T>G (p.Ile851Ser) rs752357040 0.00001
NM_031475.3(ESPN):c.882C>T (p.Asn294=) rs1023507079 0.00001
NM_031475.3(ESPN):c.931C>A (p.Leu311Met) rs766939513 0.00001
NM_031475.3(ESPN):c.1049C>G (p.Pro350Arg) rs143645714
NM_031475.3(ESPN):c.1192+8T>C rs876657461
NM_031475.3(ESPN):c.1917C>T (p.Ser639=) rs1057521382
NM_031475.3(ESPN):c.2253C>G (p.Pro751=) rs371034506
NM_031475.3(ESPN):c.2253C>T (p.Pro751=) rs371034506
NM_031475.3(ESPN):c.2502G>A (p.Glu834=) rs1644131182
NM_031475.3(ESPN):c.382G>T (p.Gly128Cys) rs145666801
NM_031475.3(ESPN):c.871C>G (p.Leu291Val) rs1348183531

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