List of variants in gene MPL reported as likely benign for Congenital amegakaryocytic thrombocytopenia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 37

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HGVS	dbSNP	gnomAD frequency
NM_005373.3(MPL):c.*662C>T	rs1763698	0.02711
NM_005373.3(MPL):c.340G>A (p.Val114Met)	rs12731981	0.02191
NM_005373.3(MPL):c.117G>T (p.Lys39Asn)	rs17292650	0.01329
NM_005373.3(MPL):c.543T>C (p.Gly181=)	rs17572791	0.00819
NM_005373.3(MPL):c.*709C>T	rs185654501	0.00737
NM_005373.3(MPL):c.1565+5C>T	rs41269541	0.00488
NM_005373.3(MPL):c.*601C>T	rs527941032	0.00479
NM_005373.3(MPL):c.210G>A (p.Pro70=)	rs6086	0.00452
NM_005373.3(MPL):c.*1506G>A	rs115780311	0.00362
NM_005373.3(MPL):c.1653+3G>A	rs149625825	0.00334
NM_005373.3(MPL):c.*364C>T	rs138892634	0.00233
NM_005373.3(MPL):c.1654-10T>A	rs200460456	0.00189
NM_005373.3(MPL):c.*1116G>A	rs144177827	0.00175
NM_005373.3(MPL):c.677C>A (p.Ser226Tyr)	rs141063159	0.00170
NM_005373.3(MPL):c.*573G>A	rs192016153	0.00138
NM_005373.3(MPL):c.*748C>T	rs190071085	0.00133
NM_005373.3(MPL):c.754T>C (p.Tyr252His)	rs141311765	0.00124
NM_005373.3(MPL):c.962G>A (p.Arg321Gln)	rs149265851	0.00072
NM_005373.3(MPL):c.1003G>A (p.Glu335Lys)	rs139770726	0.00059
NM_005373.3(MPL):c.*94C>A	rs77858532	0.00056
NM_005373.3(MPL):c.1488C>T (p.Thr496=)	rs140091584	0.00056
NM_005373.3(MPL):c.1570C>T (p.Leu524=)	rs146372205	0.00053
NM_005373.3(MPL):c.1102G>T (p.Val368Leu)	rs149810307	0.00039
NM_005373.3(MPL):c.1536G>A (p.Leu512=)	rs137990502	0.00027
NM_005373.3(MPL):c.1794C>T (p.Cys598=)	rs143457144	0.00025
NM_005373.3(MPL):c.963G>T (p.Arg321=)	rs138636505	0.00024
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.*1486T>C	rs149940158	0.00020
NM_005373.3(MPL):c.1467C>T (p.Thr489=)	rs759161511	0.00009
NM_005373.3(MPL):c.1629T>C (p.Leu543=)	rs150816330	0.00004
NM_005373.3(MPL):c.1609C>T (p.Arg537Trp)	rs148784027	0.00003
NM_005373.3(MPL):c.1119T>C (p.Gly373=)	rs748581599	0.00001
NM_005373.3(MPL):c.1134C>T (p.Tyr378=)	rs749571171	0.00001
NM_005373.3(MPL):c.273C>T (p.Tyr91=)	rs759361904	0.00001
NM_005373.3(MPL):c.*1126A>G	rs543250497
NM_005373.3(MPL):c.408C>G (p.Pro136=)	rs146579984

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