ClinVar Miner

List of variants in gene PRF1 reported as uncertain significance for anemia

Included ClinVar conditions (281):
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Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001083116.3(PRF1):c.10C>T (p.Arg4Cys) rs12161733 0.00220
NM_001083116.3(PRF1):c.1229G>A (p.Arg410Gln) rs150558419 0.00077
NM_001083116.3(PRF1):c.1070G>A (p.Arg357Gln) rs140787739 0.00027
NM_001083116.3(PRF1):c.674G>A (p.Arg225Gln) rs140281371 0.00015
NM_001083116.3(PRF1):c.1262T>G (p.Phe421Cys) rs200534908 0.00014
NM_001083116.3(PRF1):c.529C>T (p.Arg177Cys) rs201468340 0.00009
NM_001083116.3(PRF1):c.1636C>G (p.Pro546Ala) rs550799905 0.00006
NM_001083116.3(PRF1):c.796A>G (p.Ile266Val) rs200824018 0.00005
NM_001083116.3(PRF1):c.65C>T (p.Pro22Leu) rs528937278 0.00004
NM_001083116.3(PRF1):c.718C>T (p.Arg240Cys) rs754850577 0.00004
NM_001083116.3(PRF1):c.97C>T (p.Arg33Cys) rs777782785 0.00004
NM_001083116.3(PRF1):c.98G>A (p.Arg33His) rs531407289 0.00003
NM_001083116.3(PRF1):c.1097A>G (p.Gln366Arg) rs957245579 0.00001
NM_001083116.3(PRF1):c.83G>A (p.Arg28His) rs1230053761 0.00001
NM_001083116.3(PRF1):c.1334G>A (p.Gly445Asp) rs754711256
NM_001083116.3(PRF1):c.442G>A (p.Ala148Thr) rs1208723557
NM_001083116.3(PRF1):c.568C>T (p.His190Tyr)

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