List of variants reported for Congenital amegakaryocytic thrombocytopenia by Counsyl

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_005373.3(MPL):c.340G>A (p.Val114Met)	rs12731981	0.02191
NM_005373.3(MPL):c.117G>T (p.Lys39Asn)	rs17292650	0.01420
NM_005373.3(MPL):c.1565+5C>T	rs41269541	0.00488
NM_005373.3(MPL):c.210G>A (p.Pro70=)	rs6086	0.00482
NM_005373.3(MPL):c.1120A>G (p.Thr374Ala)	rs190983971	0.00082
NM_005373.3(MPL):c.962G>A (p.Arg321Gln)	rs149265851	0.00072
NM_005373.3(MPL):c.1570C>T (p.Leu524=)	rs146372205	0.00055
NM_005373.3(MPL):c.793C>T (p.Leu265Phe)	rs117656396	0.00053
NM_005373.3(MPL):c.1102G>T (p.Val368Leu)	rs149810307	0.00039
NM_005373.3(MPL):c.1666G>T (p.Val556Phe)	rs150004498	0.00023
NM_005373.3(MPL):c.209C>T (p.Pro70Leu)	rs61754776	0.00021
NM_005373.3(MPL):c.655C>G (p.Gln219Glu)	rs142737453	0.00017
NM_005373.3(MPL):c.127C>T (p.Arg43Ter)	rs148434485	0.00004
NM_005373.3(MPL):c.1063A>G (p.Lys355Glu)	rs546510242

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