ClinVar Miner

List of variants in gene EPOR reported as benign for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000121.4(EPOR):c.1138C>G (p.Pro380Ala) rs35423344 0.06184
NM_000121.4(EPOR):c.*504G>A rs150535617 0.00963
NM_000121.4(EPOR):c.1460A>G (p.Asn487Ser) rs62638745 0.00627
NM_000121.4(EPOR):c.137G>A (p.Gly46Glu) rs45516306 0.00438
NM_000121.4(EPOR):c.657C>A (p.Ala219=) rs61729384 0.00414
NM_000121.4(EPOR):c.-55G>A rs140630699 0.00345
NM_000121.4(EPOR):c.1310G>A (p.Arg437His) rs62638744 0.00253
NM_000121.4(EPOR):c.438C>T (p.Asp146=) rs114645751 0.00182
NM_000121.4(EPOR):c.168G>T (p.Arg56=) rs35977803 0.00181
NM_000121.4(EPOR):c.*425C>T rs140441486 0.00118
NM_000121.4(EPOR):c.1398T>C (p.Thr466=) rs138190746 0.00118
NM_000121.4(EPOR):c.1041G>A (p.Pro347=) rs138884102 0.00093
NM_000121.4(EPOR):c.1139C>T (p.Pro380Leu) rs199645071 0.00071
NM_000121.4(EPOR):c.*35G>A rs200997864 0.00046
NM_000121.4(EPOR):c.*670G>A rs771124995 0.00018
NM_000121.4(EPOR):c.115+7A>G rs192525298 0.00016
NM_000121.4(EPOR):c.*32T>C rs199784763 0.00014
NM_000121.4(EPOR):c.558C>T (p.Ala186=) rs377322757 0.00013
NM_000121.4(EPOR):c.*684C>A rs542954029 0.00004
NM_000121.4(EPOR):c.251+7C>A rs199788179 0.00001
NM_000121.4(EPOR):c.*577A>G rs141524122
NM_000121.4(EPOR):c.1427C>T (p.Ala476Val) rs146937816
NM_000121.4(EPOR):c.568G>T (p.Ala190Ser) rs139849355

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