ClinVar Miner

List of variants studied for Mendelian encephalopathy by Natera, Inc.

Included ClinVar conditions (29):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_014297.5(ETHE1):c.6G>A (p.Ala2=) rs3810381 0.17604
NM_014297.5(ETHE1):c.61G>T (p.Ala21Ser) rs116440799 0.01865
NM_014297.5(ETHE1):c.-45G>A rs144136377 0.00621
NM_014297.5(ETHE1):c.227-9C>G rs199921503 0.00367
NM_014297.5(ETHE1):c.278C>T (p.Ser93Phe) rs199827754 0.00027
NM_014297.5(ETHE1):c.150G>C (p.Leu50=) rs142193567 0.00026
NM_014297.5(ETHE1):c.184G>A (p.Ala62Thr) rs138958351 0.00020
NM_014297.5(ETHE1):c.46C>T (p.Arg16Cys) rs761653656 0.00007
NM_014297.5(ETHE1):c.375+7T>C rs752466453 0.00006
NM_014297.5(ETHE1):c.9G>A (p.Glu3=) rs773937760 0.00006
NM_014297.5(ETHE1):c.487C>T (p.Arg163Trp) rs28940289 0.00004
NM_014297.5(ETHE1):c.426C>T (p.Phe142=) rs566533497 0.00002
NM_014297.5(ETHE1):c.427G>A (p.Val143Ile) rs201846162 0.00002
NM_014297.5(ETHE1):c.488G>A (p.Arg163Gln) rs745656120 0.00002
NM_014297.5(ETHE1):c.-47C>T rs368890798 0.00001
NM_014297.5(ETHE1):c.420C>T (p.Val140=) rs374482389 0.00001
NM_014297.5(ETHE1):c.489G>A (p.Arg163=) rs533076307 0.00001
NM_014297.5(ETHE1):c.48C>G (p.Arg16=) rs775755606 0.00001
NM_014297.5(ETHE1):c.554T>G (p.Leu185Arg) rs387906987 0.00001
NM_014297.5(ETHE1):c.708G>T (p.Gln236His) rs1218439131 0.00001
NM_014297.5(ETHE1):c.757A>G (p.Thr253Ala) rs1971779762 0.00001
NM_014297.5(ETHE1):c.-62C>G rs114033490
NM_014297.5(ETHE1):c.11C>G (p.Ala4Gly) rs549901509
NM_014297.5(ETHE1):c.131_132del (p.Glu44fs) rs761827730
NM_014297.5(ETHE1):c.149T>A (p.Leu50Gln) rs1309080740
NM_014297.5(ETHE1):c.221dup (p.Tyr74Ter) rs863223955
NM_014297.5(ETHE1):c.299C>T (p.Ser100Phe) rs1972243964
NM_014297.5(ETHE1):c.372C>T (p.Arg124=) rs1972241147
NM_014297.5(ETHE1):c.378G>T (p.Ala126=) rs138427304
NM_014297.5(ETHE1):c.3G>T (p.Met1Ile) rs119103249
NM_014297.5(ETHE1):c.49G>A (p.Gly17Ser) rs1468127110
NM_014297.5(ETHE1):c.505+4A>G rs1568493446
NM_014297.5(ETHE1):c.596-2A>G rs863223954
NM_014297.5(ETHE1):c.761C>T (p.Ala254Val) rs1366031091
NM_014297.5(ETHE1):c.79C>A (p.Gln27Lys) rs749803238

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