ClinVar Miner

List of variants reported as not provided for acute disease by GenomeConnect, ClinGen

Included ClinVar conditions (75):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000097.7(CPOX):c.814A>C (p.Asn272His) rs1131857 0.24099
NM_004119.3(FLT3):c.2211G>C (p.Met737Ile) rs148592477 0.00025
NM_018006.5(TRMU):c.880C>T (p.Arg294Trp) rs773745635 0.00005
NM_004972.4(JAK2):c.2571+5A>C rs775085241 0.00004
NM_000304.4(PMP22):c.362A>G (p.His121Arg) rs1567698985
NM_001122764.3(PPOX):c.590T>C (p.Ile197Thr) rs1553238545
NM_013254.4(TBK1):c.1387_1388del (p.Glu463fs) rs1555204731

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