ClinVar Miner

List of variants in gene EGLN1, LOC129932769 studied for immune system disorder

Included ClinVar conditions (908):
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Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_022051.3(EGLN1):c.891+17G>C rs200793131 0.00076
NM_022051.3(EGLN1):c.843C>T (p.Arg281=) rs143108243 0.00009
NM_022051.3(EGLN1):c.832G>A (p.Asp278Asn) rs371536347 0.00003
NM_022051.3(EGLN1):c.780G>A (p.Glu260=) rs766379743 0.00001
NM_022051.3(EGLN1):c.816C>T (p.Leu272=) rs1397779178 0.00001
NM_022051.3(EGLN1):c.833A>G (p.Asp278Gly) rs753303580 0.00001
NM_022051.3(EGLN1):c.867C>G (p.Ser289Arg) rs763045676 0.00001
NM_022051.3(EGLN1):c.789G>A (p.Glu263=)
NM_022051.3(EGLN1):c.791C>T (p.Pro264Leu)
NM_022051.3(EGLN1):c.792C>T (p.Pro264=)
NM_022051.3(EGLN1):c.806T>C (p.Ile269Thr)
NM_022051.3(EGLN1):c.813G>A (p.Leu271=)
NM_022051.3(EGLN1):c.817A>G (p.Met273Val) rs1266390455
NM_022051.3(EGLN1):c.824G>A (p.Ser275Asn)
NM_022051.3(EGLN1):c.825C>T (p.Ser275=) rs771660894
NM_022051.3(EGLN1):c.826A>G (p.Met276Val)
NM_022051.3(EGLN1):c.831C>T (p.Asp277=)
NM_022051.3(EGLN1):c.832G>T (p.Asp278Tyr)
NM_022051.3(EGLN1):c.834C>T (p.Asp278=)
NM_022051.3(EGLN1):c.840A>G (p.Ile280Met)
NM_022051.3(EGLN1):c.845A>G (p.His282Arg)
NM_022051.3(EGLN1):c.848G>C (p.Cys283Ser)
NM_022051.3(EGLN1):c.855G>A (p.Gly285=)
NM_022051.3(EGLN1):c.866G>T (p.Ser289Ile)
NM_022051.3(EGLN1):c.871A>G (p.Lys291Glu)
NM_022051.3(EGLN1):c.872A>G (p.Lys291Arg) rs1656572784
NM_022051.3(EGLN1):c.878A>G (p.Asn293Ser)
NM_022051.3(EGLN1):c.891+10T>C
NM_022051.3(EGLN1):c.891+17G>A
NM_022051.3(EGLN1):c.891+8T>C

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