ClinVar Miner

List of variants in gene KIT studied for Partial albinism

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Total variants: 99
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HGVS dbSNP
KIT, DEL
NM_000222.2(KIT):c.*1059C>T rs886059467
NM_000222.2(KIT):c.*1086C>T rs533152310
NM_000222.2(KIT):c.*1101A>G rs886059468
NM_000222.2(KIT):c.*1241G>A rs114377961
NM_000222.2(KIT):c.*1487_*1490del rs374796688
NM_000222.2(KIT):c.*149C>T rs2213181
NM_000222.2(KIT):c.*1524A>G rs17084736
NM_000222.2(KIT):c.*1704G>T rs8022
NM_000222.2(KIT):c.*1791G>A rs77842054
NM_000222.2(KIT):c.*1808A>G rs762662037
NM_000222.2(KIT):c.*198A>G rs886059464
NM_000222.2(KIT):c.*252G>T rs376694515
NM_000222.2(KIT):c.*352A>G rs149336515
NM_000222.2(KIT):c.*368C>T rs886059465
NM_000222.2(KIT):c.*393A>G rs886059466
NM_000222.2(KIT):c.*597C>T rs746982052
NM_000222.2(KIT):c.*790A>G rs189995563
NM_000222.2(KIT):c.-14T>A rs140909964
NM_000222.2(KIT):c.1119C>T (p.Tyr373=) rs72549293
NM_000222.2(KIT):c.1120G>A (p.Val374Ile) rs73137716
NM_000222.2(KIT):c.1139C>T (p.Thr380Met) rs760981584
NM_000222.2(KIT):c.1185C>A (p.Ser395=) rs755864184
NM_000222.2(KIT):c.1195G>A (p.Val399Ile) rs143707288
NM_000222.2(KIT):c.123A>T (p.Pro41=) rs72549300
NM_000222.2(KIT):c.1264G>A (p.Val422Met) rs1560414398
NM_000222.2(KIT):c.1274T>A (p.Met425Lys) rs878853760
NM_000222.2(KIT):c.1383A>G (p.Thr461=) rs151016327
NM_000222.2(KIT):c.148G>T (p.Val50Leu) rs200950545
NM_000222.2(KIT):c.1588G>A (p.Val530Ile) rs72550822
NM_000222.2(KIT):c.1594G>A (p.Val532Ile) rs55792975
NM_000222.2(KIT):c.1618G>C (p.Val540Leu) rs756179543
NM_000222.2(KIT):c.1621A>C (p.Met541Leu) rs3822214
NM_000222.2(KIT):c.1638A>G (p.Lys546=) rs55986963
NM_000222.2(KIT):c.1674G>A (p.Lys558=) rs200375589
NM_000222.2(KIT):c.1681dup (p.Glu561fs) rs794726673
NM_000222.2(KIT):c.1694G>T (p.Gly565Val) rs200945282
NM_000222.2(KIT):c.1747G>A (p.Glu583Lys) rs121913680
NM_000222.2(KIT):c.1751T>G (p.Phe584Cys) rs28933371
NM_000222.2(KIT):c.1752T>G (p.Phe584Leu) rs794726671
NM_000222.2(KIT):c.1794A>T (p.Gly598=) rs72549292
NM_000222.2(KIT):c.1879+1G>A rs794726675
NM_000222.2(KIT):c.1889A>G (p.His630Arg) rs373554876
NM_000222.2(KIT):c.1925_1926del (p.Lys642fs) rs794726672
NM_000222.2(KIT):c.1990G>A (p.Gly664Arg) rs121913679
NM_000222.2(KIT):c.2000T>G (p.Leu667Arg) rs1560419312
NM_000222.2(KIT):c.200C>G (p.Thr67Ser) rs144933028
NM_000222.2(KIT):c.2118T>G (p.Leu706=) rs766840704
NM_000222.2(KIT):c.2234-3C>T rs370131461
NM_000222.2(KIT):c.2263G>A (p.Ala755Thr) rs201165084
NM_000222.2(KIT):c.2349C>T (p.Leu783=) rs151046591
NM_000222.2(KIT):c.2394C>T (p.Ile798=) rs55789615
NM_000222.2(KIT):c.2484C>T (p.Asn828=) rs141347955
NM_000222.2(KIT):c.252G>A (p.Thr84=) rs56411694
NM_000222.2(KIT):c.252G>T (p.Thr84=) rs56411694
NM_000222.2(KIT):c.2539A>C (p.Thr847Pro) rs121913687
NM_000222.2(KIT):c.253del (p.Glu85fs) rs794726674
NM_000222.2(KIT):c.2562C>G (p.Ser854=) rs750039813
NM_000222.2(KIT):c.2586G>C (p.Leu862=) rs3733542
NM_000222.2(KIT):c.2622G>A (p.Pro874=) rs55817813
NM_000222.2(KIT):c.2670C>T (p.Leu890=) rs745967881
NM_000222.2(KIT):c.2802+9A>G rs369450271
NM_000222.2(KIT):c.2805T>A (p.Ile935=) rs72549296
NM_000222.2(KIT):c.2847C>T (p.Pro949=) rs56288823
NM_000222.2(KIT):c.2848G>A (p.Val950Met) rs146374006
NM_000222.2(KIT):c.2923G>C (p.Asp975His) rs373152714
NM_000222.2(KIT):c.301C>T (p.His101Tyr) rs781130745
NM_000222.2(KIT):c.464C>T (p.Pro155Leu) rs367719489
NM_000222.2(KIT):c.67+4G>A rs72550820
NM_000222.2(KIT):c.821C>T (p.Thr274Met) rs138585275
NM_000222.2(KIT):c.878A>G (p.Asn293Ser) rs137909416
NM_000222.2(KIT):c.910A>G (p.Thr304Ala) rs202052259
NM_000222.2(KIT):c.952A>G (p.Met318Val) rs143388949
NM_000222.2(KIT):c.978C>T (p.Asn326=) rs148594615
NM_000222.3(KIT):c.*1087G>C
NM_000222.3(KIT):c.*1190A>G
NM_000222.3(KIT):c.*1220C>T
NM_000222.3(KIT):c.*1577T>C
NM_000222.3(KIT):c.*17G>A
NM_000222.3(KIT):c.*1834A>G
NM_000222.3(KIT):c.*2017T>C
NM_000222.3(KIT):c.*2041A>G
NM_000222.3(KIT):c.*2056G>A
NM_000222.3(KIT):c.*299G>C
NM_000222.3(KIT):c.*37T>C
NM_000222.3(KIT):c.*381C>T
NM_000222.3(KIT):c.*390A>G
NM_000222.3(KIT):c.*530A>G
NM_000222.3(KIT):c.*575A>G
NM_000222.3(KIT):c.*66T>G
NM_000222.3(KIT):c.*701A>G
NM_000222.3(KIT):c.*888T>C
NM_000222.3(KIT):c.*929G>A
NM_000222.3(KIT):c.-21G>T
NM_000222.3(KIT):c.-56A>C
NM_000222.3(KIT):c.211C>G (p.Leu71Val)
NM_000222.3(KIT):c.615G>A (p.Arg205=)
NM_000222.3(KIT):c.67+12C>T
NM_000222.3(KIT):c.78A>C (p.Gln26His)

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