List of variants in gene KIT reported as uncertain significance for myeloproliferative neoplasm

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: 44

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HGVS	dbSNP	gnomAD frequency
NM_000222.3(KIT):c.200C>G (p.Thr67Ser)	rs144933028	0.00045
NM_000222.3(KIT):c.464C>T (p.Pro155Leu)	rs367719489	0.00009
NM_000222.3(KIT):c.2920G>A (p.Asp974Asn)	rs72549297	0.00006
NM_000222.3(KIT):c.2104C>G (p.Leu702Val)	rs768847037	0.00004
NM_000222.3(KIT):c.2663G>A (p.Arg888Gln)	rs776681643	0.00004
NM_000222.3(KIT):c.2881G>A (p.Gly961Ser)	rs773828910	0.00003
NM_000222.3(KIT):c.159G>C (p.Glu53Asp)	rs749431345	0.00002
NM_000222.3(KIT):c.2057G>A (p.Arg686His)	rs143772138	0.00002
NM_000222.3(KIT):c.2836C>T (p.Arg946Ter)	rs139000082	0.00002
NM_000222.3(KIT):c.2866C>T (p.Arg956Trp)	rs587778433	0.00002
NM_000222.3(KIT):c.555T>G (p.His185Gln)	rs1227095960	0.00002
NM_000222.3(KIT):c.749A>G (p.Asn250Ser)	rs748527429	0.00002
NM_000222.3(KIT):c.793G>A (p.Gly265Ser)	rs1060502570	0.00002
NM_000222.3(KIT):c.1231+13A>T	rs765419741	0.00001
NM_000222.3(KIT):c.1553C>T (p.Pro518Leu)	rs569408054	0.00001
NM_000222.3(KIT):c.2138C>A (p.Ser713Tyr)	rs775274159	0.00001
NM_000222.3(KIT):c.2612C>G (p.Pro871Arg)	rs755797225	0.00001
NM_000222.3(KIT):c.2692G>A (p.Glu898Lys)	rs1722948356	0.00001
NM_000222.3(KIT):c.2848G>A (p.Val950Met)	rs146374006	0.00001
NM_000222.3(KIT):c.2863G>T (p.Val955Leu)	rs1060502568	0.00001
NM_000222.3(KIT):c.2900C>G (p.Ser967Cys)	rs1232060384	0.00001
NM_000222.3(KIT):c.1109A>G (p.Asn370Ser)	rs878853758
NM_000222.3(KIT):c.1344G>C (p.Gln448His)	rs542718349
NM_000222.3(KIT):c.148G>T (p.Val50Leu)	rs200950545
NM_000222.3(KIT):c.1879C>G (p.Pro627Ala)
NM_000222.3(KIT):c.1900C>T (p.Arg634Trp)	rs144369407
NM_000222.3(KIT):c.1924A>C (p.Lys642Gln)
NM_000222.3(KIT):c.1952T>A (p.Met651Lys)	rs1374100918
NM_000222.3(KIT):c.2116C>T (p.Leu706Phe)	rs1577998119
NM_000222.3(KIT):c.2138C>T (p.Ser713Phe)	rs775274159
NM_000222.3(KIT):c.2164A>G (p.Met722Val)	rs1255211227
NM_000222.3(KIT):c.2294A>G (p.Asp765Gly)	rs1060502545
NM_000222.3(KIT):c.2449A>T (p.Ile817Phe)
NM_000222.3(KIT):c.2564A>G (p.Tyr855Cys)	rs1722933723
NM_000222.3(KIT):c.2781G>T (p.Gln927His)
NM_000222.3(KIT):c.2887A>G (p.Thr963Ala)	rs773709702
NM_000222.3(KIT):c.302A>G (p.His101Arg)	rs1274601103
NM_000222.3(KIT):c.458G>C (p.Gly153Ala)
NM_000222.3(KIT):c.67+5G>T	rs1553881794
NM_000222.3(KIT):c.677G>A (p.Gly226Glu)	rs1577958652
NM_000222.3(KIT):c.689C>T (p.Thr230Ile)
NM_000222.3(KIT):c.767A>G (p.Gln256Arg)
NM_000222.3(KIT):c.867G>A (p.Met289Ile)	rs1297145844
NM_000222.3(KIT):c.978C>G (p.Asn326Lys)	rs148594615

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