ClinVar Miner

List of variants studied for Thrombocythemia 2

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_005373.3(MPL):c.117G>T (p.Lys39Asn) rs17292650 0.01420
NM_005373.3(MPL):c.1610G>A (p.Arg537Gln) rs3820551 0.00009
NM_005373.3(MPL):c.127C>T (p.Arg43Ter) rs148434485 0.00004
NM_005373.3(MPL):c.1169G>A (p.Arg390His) rs1298113648 0.00001
NM_005373.3(MPL):c.1514G>A (p.Ser505Asn) rs121913614
NM_005373.3(MPL):c.1612G>C (p.Val538Leu)
NM_005373.3(MPL):c.1719G>C (p.Lys573Asn)
NM_005373.3(MPL):c.317C>T (p.Pro106Leu) rs750046020
NM_005373.3(MPL):c.684T>A (p.Ser228Arg)

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