ClinVar Miner

List of variants in gene ZFPM2 studied for respiratory system disorder

Included ClinVar conditions (372):
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Gene type:
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_012082.4(ZFPM2):c.1969A>G (p.Ser657Gly) rs28374544 0.04175
NM_012082.4(ZFPM2):c.40+12C>G rs149902904 0.00711
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile) rs187043152 0.00306
NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly) rs121908601 0.00302
NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu) rs121908603 0.00019
NM_012082.4(ZFPM2):c.1463T>C (p.Ile488Thr) rs775854541 0.00003
NM_012082.4(ZFPM2):c.1168A>C (p.Lys390Gln) rs536096943 0.00001
NM_012082.4(ZFPM2):c.334C>T (p.Arg112Ter) rs121908602 0.00001
GRCh38/hg38 8q23.1(chr8:105628485-105634938)
NM_012082.4(ZFPM2):c.130G>A (p.Glu44Lys) rs569356297
NM_012082.4(ZFPM2):c.1396_1399dup (p.Tyr467fs) rs1814012663
NM_012082.4(ZFPM2):c.235G>C (p.Asp79His)
NM_012082.4(ZFPM2):c.3335G>A (p.Ser1112Asn) rs763181942
NM_012082.4(ZFPM2):c.349C>T (p.Arg117Ter) rs2536827502
NM_012082.4(ZFPM2):c.350G>A (p.Arg117Gln)
NM_012082.4(ZFPM2):c.757_761dup (p.Cys255fs) rs1813907455
NM_012082.4(ZFPM2):c.931C>G (p.Arg311Gly)

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