ClinVar Miner

List of variants in gene ESPN studied for autosomal recessive disease

Included ClinVar conditions (1204):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
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.1386A>G (p.Val462=) rs150033799 0.00296
NM_031475.3(ESPN):c.1048C>T (p.Pro350Ser) rs115143295 0.00081
NM_031475.3(ESPN):c.2230G>A (p.Asp744Asn) rs121908135 0.00013
NM_031475.3(ESPN):c.935C>T (p.Ser312Leu) rs189442618 0.00012
NM_031475.3(ESPN):c.1426A>C (p.Lys476Gln) rs552715518 0.00003
NM_031475.3(ESPN):c.1464+1G>A rs752649606 0.00002
NM_031475.3(ESPN):c.1870G>A (p.Ala624Thr) rs758680191 0.00002
NM_031475.3(ESPN):c.2069C>T (p.Ser690Leu) rs117053591 0.00001
NM_031475.3(ESPN):c.2524C>T (p.Arg842Ter) rs1644131579 0.00001
NM_031475.2(ESPN):c.2339_2341delAGG rs1399633263
NM_031475.3(ESPN):c.1649_1665del (p.Arg550fs)
NM_031475.3(ESPN):c.1762G>A (p.Asp588Asn)
NM_031475.3(ESPN):c.1803GCC[5] (p.Pro605dup) rs761087054
NM_031475.3(ESPN):c.1916-1G>C rs1643944047
NM_031475.3(ESPN):c.1972G>A (p.Glu658Lys)
NM_031475.3(ESPN):c.1988_1991del (p.Lys663fs) rs1569726455
NM_031475.3(ESPN):c.2081_2082del (p.Ser694fs) rs2148538836
NM_031475.3(ESPN):c.2263C>T (p.Arg755Cys)
NM_031475.3(ESPN):c.2369_2386del (p.Arg790_Arg795del) rs1557720377
NM_031475.3(ESPN):c.2446G>T (p.Glu816Ter) rs1485674839
NM_031475.3(ESPN):c.2470_2473del (p.Ser824fs) rs1569770998
NM_031475.3(ESPN):c.2496C>G (p.Tyr832Ter)
NM_031475.3(ESPN):c.2496del (p.Gly831_Tyr832insTer) rs754472294
NM_031475.3(ESPN):c.2539AAG[1] (p.Lys848del) rs1569771486

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