ClinVar Miner

List of variants studied for acquired polycythemia vera

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_004972.4(JAK2):c.3188G>A (p.Arg1063His) rs41316003 0.00500
NM_004972.4(JAK2):c.1641+6T>C rs182123615 0.00109
NM_004972.4(JAK2):c.380G>A (p.Gly127Asp) rs56118985 0.00048
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_004972.4(JAK2):c.2571+5A>C rs775085241 0.00004
NM_002227.4(JAK1):c.1972G>T (p.Val658Phe) rs1057519753
NM_004972.4(JAK2):c.1694G>C (p.Arg565Thr) rs2130546358
Single allele

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