ClinVar Miner

List of variants in gene ELP1 reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 15
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HGVS dbSNP
NM_003640.3(ELP1):c.2204+6T>C rs111033171
NM_003640.3(ELP1):c.2543C>A (p.Thr848Asn) rs10979599
NM_003640.4(ELP1):c.1144G>A (p.Gly382Arg) rs776167946
NM_003640.4(ELP1):c.1230G>A (p.Pro410=) rs41278359
NM_003640.4(ELP1):c.1461-2A>G rs866046915
NM_003640.4(ELP1):c.1704A>G (p.Ser568=) rs138192941
NM_003640.4(ELP1):c.1814A>G (p.Tyr605Cys) rs756919296
NM_003640.4(ELP1):c.208C>T (p.Arg70Cys) rs3737311
NM_003640.4(ELP1):c.2189G>A (p.Arg730Gln) rs374558203
NM_003640.4(ELP1):c.2217A>G (p.Lys739=) rs139583037
NM_003640.4(ELP1):c.2294G>A (p.Gly765Glu) rs2230792
NM_003640.4(ELP1):c.3152C>T (p.Thr1051Ile) rs747546817
NM_003640.4(ELP1):c.3280A>G (p.Arg1094Gly) rs146440397
NM_003640.5(ELP1):c.1886G>A (p.Arg629His) rs148378319
NM_003640.5(ELP1):c.312T>A (p.Cys104Ter) rs1291760879

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