ClinVar Miner

List of variants reported as likely benign for McKusick-Kaufman syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 192
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HGVS dbSNP gnomAD frequency
NM_170784.3(MKKS):c.1462G>A (p.Ala488Thr) rs61734546 0.01201
NM_001394148.2(LOC128706665):c.*87A>G rs140884406 0.00358
NM_170784.3(MKKS):c.15A>G (p.Glu5=) rs145396188 0.00074
NM_170784.3(MKKS):c.67A>G (p.Arg23Gly) rs147545395 0.00068
NM_170784.3(MKKS):c.231G>A (p.Leu77=) rs373913834 0.00035
NM_170784.3(MKKS):c.416G>A (p.Arg139Gln) rs145045986 0.00031
NM_001394148.2(LOC128706665):c.*130A>G rs3748466 0.00028
NM_170784.3(MKKS):c.1553G>A (p.Arg518His) rs149051148 0.00014
NM_170784.3(MKKS):c.1167G>A (p.Thr389=) rs367980245 0.00010
NM_170784.3(MKKS):c.1356T>C (p.Ser452=) rs201977053 0.00008
NM_170784.3(MKKS):c.874C>T (p.Leu292=) rs758645426 0.00005
NM_170784.3(MKKS):c.792T>C (p.Tyr264=) rs74315397 0.00004
NM_001394148.2(LOC128706665):c.-22+2430T>G rs377246386 0.00003
NM_170784.3(MKKS):c.822C>T (p.Asp274=) rs761342904 0.00003
NM_170784.3(MKKS):c.282C>T (p.Phe94=) rs769886552 0.00002
NM_170784.3(MKKS):c.297C>T (p.Cys99=) rs748395304 0.00002
NM_170784.3(MKKS):c.429C>T (p.Asp143=) rs760963161 0.00002
NM_170784.3(MKKS):c.432T>C (p.Phe144=) rs1183097312 0.00002
NM_170784.3(MKKS):c.1059A>G (p.Ala353=) rs768799434 0.00001
NM_170784.3(MKKS):c.1104A>G (p.Ala368=) rs752192391 0.00001
NM_170784.3(MKKS):c.1269C>T (p.His423=) rs144313303 0.00001
NM_170784.3(MKKS):c.1272+17T>G rs1433995589 0.00001
NM_170784.3(MKKS):c.1272+18C>T rs757800590 0.00001
NM_170784.3(MKKS):c.1360C>T (p.Leu454=) rs1210784201 0.00001
NM_170784.3(MKKS):c.1422T>C (p.Tyr474=) rs777980292 0.00001
NM_170784.3(MKKS):c.1578T>G (p.Leu526=) rs756442707 0.00001
NM_170784.3(MKKS):c.1599A>T (p.Ser533=) rs767432410 0.00001
NM_170784.3(MKKS):c.1645C>T (p.Leu549=) rs1010755325 0.00001
NM_170784.3(MKKS):c.1695T>C (p.Val565=) rs554395344 0.00001
NM_170784.3(MKKS):c.210A>C (p.Thr70=) rs1471154105 0.00001
NM_170784.3(MKKS):c.273T>C (p.Cys91=) rs1358889476 0.00001
NM_170784.3(MKKS):c.30A>T (p.Ser10=) rs752207403 0.00001
NM_170784.3(MKKS):c.525T>C (p.Ser175=) rs745771800 0.00001
NM_170784.3(MKKS):c.642A>G (p.Val214=) rs750470997 0.00001
NM_170784.3(MKKS):c.747C>T (p.Ser249=) rs187543885 0.00001
NM_170784.3(MKKS):c.780G>A (p.Val260=) rs781401127 0.00001
NM_170784.3(MKKS):c.783G>C (p.Val261=) rs751761252 0.00001
NM_170784.3(MKKS):c.945A>G (p.Arg315=) rs763720494 0.00001
NM_170784.3(MKKS):c.986-10T>G rs368654512 0.00001
NM_170784.3(MKKS):c.-649+2202_-649+2204dup rs143825746
NM_170784.3(MKKS):c.1008A>G (p.Leu336=) rs973676101
NM_170784.3(MKKS):c.1011C>T (p.Gly337=)
NM_170784.3(MKKS):c.1032T>C (p.Tyr344=)
NM_170784.3(MKKS):c.1044A>G (p.Lys348=)
NM_170784.3(MKKS):c.1047T>C (p.Asp349=)
NM_170784.3(MKKS):c.105A>T (p.Ser35=)
NM_170784.3(MKKS):c.1095T>C (p.Pro365=)
NM_170784.3(MKKS):c.1110C>T (p.Ile370=)
NM_170784.3(MKKS):c.111T>C (p.Tyr37=)
NM_170784.3(MKKS):c.1125C>T (p.Leu375=)
NM_170784.3(MKKS):c.1161+13_1161+19dup
NM_170784.3(MKKS):c.1161+16del
NM_170784.3(MKKS):c.1161+17G>C
NM_170784.3(MKKS):c.1162-10T>G
NM_170784.3(MKKS):c.1162-11T>C
NM_170784.3(MKKS):c.1162-12del rs781066396
NM_170784.3(MKKS):c.1162-15T>G
NM_170784.3(MKKS):c.1162-5C>G
NM_170784.3(MKKS):c.1162-7T>C
NM_170784.3(MKKS):c.1164C>T (p.Leu388=) rs1302683154
NM_170784.3(MKKS):c.1167G>C (p.Thr389=)
NM_170784.3(MKKS):c.1167G>T (p.Thr389=)
NM_170784.3(MKKS):c.1170T>C (p.Cys390=)
NM_170784.3(MKKS):c.1176G>A (p.Thr392=) rs1441106610
NM_170784.3(MKKS):c.1191G>A (p.Leu397=)
NM_170784.3(MKKS):c.1203C>T (p.Leu401=)
NM_170784.3(MKKS):c.120A>C (p.Ser40=)
NM_170784.3(MKKS):c.1222T>C (p.Leu408=)
NM_170784.3(MKKS):c.123T>A (p.Gly41=)
NM_170784.3(MKKS):c.1257A>G (p.Ala419=)
NM_170784.3(MKKS):c.1260T>C (p.Tyr420=)
NM_170784.3(MKKS):c.1266A>G (p.Arg422=) rs1424059028
NM_170784.3(MKKS):c.1272+11T>C
NM_170784.3(MKKS):c.1272+14T>A
NM_170784.3(MKKS):c.1272+14T>C
NM_170784.3(MKKS):c.1272+16C>G
NM_170784.3(MKKS):c.1272+20T>C
NM_170784.3(MKKS):c.1272+7A>G rs1209169319
NM_170784.3(MKKS):c.1272+8A>G
NM_170784.3(MKKS):c.1272+9G>A
NM_170784.3(MKKS):c.1273-8C>T
NM_170784.3(MKKS):c.1273-9A>G rs1239375783
NM_170784.3(MKKS):c.1278C>T (p.His426=)
NM_170784.3(MKKS):c.1281C>T (p.Asn427=)
NM_170784.3(MKKS):c.1299C>G (p.Leu433=)
NM_170784.3(MKKS):c.1299C>T (p.Leu433=)
NM_170784.3(MKKS):c.1311A>G (p.Glu437=)
NM_170784.3(MKKS):c.1332A>G (p.Gln444=)
NM_170784.3(MKKS):c.135G>A (p.Gln45=) rs976383350
NM_170784.3(MKKS):c.1368T>C (p.Ser456=)
NM_170784.3(MKKS):c.1377C>T (p.Gly459=)
NM_170784.3(MKKS):c.1380T>C (p.Ser460=)
NM_170784.3(MKKS):c.1404T>C (p.Ile468=)
NM_170784.3(MKKS):c.1410T>C (p.Thr470=)
NM_170784.3(MKKS):c.1410T>G (p.Thr470=)
NM_170784.3(MKKS):c.1437A>G (p.Ser479=)
NM_170784.3(MKKS):c.1464T>C (p.Ala488=) rs2122219775
NM_170784.3(MKKS):c.147C>T (p.Gly49=)
NM_170784.3(MKKS):c.1545C>T (p.Ser515=)
NM_170784.3(MKKS):c.1548_1549delinsCT (p.Arg517Cys)
NM_170784.3(MKKS):c.1569A>G (p.Gln523=)
NM_170784.3(MKKS):c.1572C>T (p.Ser524=) rs2122219499
NM_170784.3(MKKS):c.159C>T (p.Tyr53=)
NM_170784.3(MKKS):c.1602C>T (p.Ala534=) rs1408681070
NM_170784.3(MKKS):c.1605C>T (p.Ser535=)
NM_170784.3(MKKS):c.1608C>T (p.Asn536=)
NM_170784.3(MKKS):c.1611G>A (p.Leu537=)
NM_170784.3(MKKS):c.162G>T (p.Val54=)
NM_170784.3(MKKS):c.1689A>G (p.Ser563=)
NM_170784.3(MKKS):c.1689A>T (p.Ser563=) rs147688404
NM_170784.3(MKKS):c.1692T>C (p.Tyr564=)
NM_170784.3(MKKS):c.1704T>C (p.Asp568=)
NM_170784.3(MKKS):c.174A>C (p.Ser58=)
NM_170784.3(MKKS):c.180C>T (p.Ser60=) rs2064909876
NM_170784.3(MKKS):c.189G>A (p.Leu63=)
NM_170784.3(MKKS):c.192C>T (p.Leu64=)
NM_170784.3(MKKS):c.198C>T (p.His66=)
NM_170784.3(MKKS):c.207C>T (p.Val69=) rs1382659817
NM_170784.3(MKKS):c.213T>C (p.His71=)
NM_170784.3(MKKS):c.255G>T (p.Val85=)
NM_170784.3(MKKS):c.27A>C (p.Pro9=)
NM_170784.3(MKKS):c.288T>C (p.Ala96=)
NM_170784.3(MKKS):c.303C>T (p.Asn101=)
NM_170784.3(MKKS):c.30A>G (p.Ser10=)
NM_170784.3(MKKS):c.318T>G (p.Val106=)
NM_170784.3(MKKS):c.327A>G (p.Leu109=)
NM_170784.3(MKKS):c.336A>G (p.Thr112=)
NM_170784.3(MKKS):c.33G>A (p.Leu11=)
NM_170784.3(MKKS):c.357A>G (p.Leu119=)
NM_170784.3(MKKS):c.390T>C (p.Tyr130=)
NM_170784.3(MKKS):c.393C>G (p.Leu131=)
NM_170784.3(MKKS):c.393C>T (p.Leu131=)
NM_170784.3(MKKS):c.405C>T (p.Thr135=)
NM_170784.3(MKKS):c.411T>A (p.Gly137=)
NM_170784.3(MKKS):c.411T>C (p.Gly137=)
NM_170784.3(MKKS):c.415C>A (p.Arg139=)
NM_170784.3(MKKS):c.435T>C (p.Ser145=)
NM_170784.3(MKKS):c.462G>A (p.Val154=)
NM_170784.3(MKKS):c.498C>T (p.Leu166=) rs767797613
NM_170784.3(MKKS):c.504A>G (p.Arg168=)
NM_170784.3(MKKS):c.513A>G (p.Thr171=)
NM_170784.3(MKKS):c.522C>G (p.Val174=)
NM_170784.3(MKKS):c.529T>C (p.Leu177=)
NM_170784.3(MKKS):c.540A>G (p.Arg180=)
NM_170784.3(MKKS):c.547T>C (p.Leu183=)
NM_170784.3(MKKS):c.561A>C (p.Pro187=)
NM_170784.3(MKKS):c.570T>C (p.Ala190=) rs1191520552
NM_170784.3(MKKS):c.582C>A (p.Ile194=) rs2064903385
NM_170784.3(MKKS):c.591A>G (p.Gly197=)
NM_170784.3(MKKS):c.594G>A (p.Lys198=)
NM_170784.3(MKKS):c.621A>G (p.Gln207=)
NM_170784.3(MKKS):c.648T>A (p.Pro216=)
NM_170784.3(MKKS):c.657C>A (p.Leu219=)
NM_170784.3(MKKS):c.657C>T (p.Leu219=)
NM_170784.3(MKKS):c.663A>G (p.Glu221=)
NM_170784.3(MKKS):c.66C>A (p.Val22=)
NM_170784.3(MKKS):c.66C>G (p.Val22=)
NM_170784.3(MKKS):c.678A>G (p.Gln226=)
NM_170784.3(MKKS):c.687G>A (p.Arg229=)
NM_170784.3(MKKS):c.690A>G (p.Leu230=)
NM_170784.3(MKKS):c.6T>C (p.Ser2=)
NM_170784.3(MKKS):c.708A>G (p.Ser236=)
NM_170784.3(MKKS):c.717C>T (p.Leu239=) rs1214711344
NM_170784.3(MKKS):c.729C>G (p.Leu243=)
NM_170784.3(MKKS):c.729C>T (p.Leu243=)
NM_170784.3(MKKS):c.732T>C (p.Phe244=)
NM_170784.3(MKKS):c.738A>G (p.Thr246=)
NM_170784.3(MKKS):c.765T>C (p.Thr255=)
NM_170784.3(MKKS):c.783G>A (p.Val261=)
NM_170784.3(MKKS):c.783G>T (p.Val261=)
NM_170784.3(MKKS):c.801T>G (p.Ser267=)
NM_170784.3(MKKS):c.81T>C (p.Ser27=)
NM_170784.3(MKKS):c.834C>T (p.Asn278=)
NM_170784.3(MKKS):c.843G>A (p.Arg281=)
NM_170784.3(MKKS):c.858C>T (p.Asp286=)
NM_170784.3(MKKS):c.861C>T (p.His287=)
NM_170784.3(MKKS):c.864A>C (p.Val288=)
NM_170784.3(MKKS):c.897A>G (p.Pro299=)
NM_170784.3(MKKS):c.969C>G (p.Pro323=) rs762646572
NM_170784.3(MKKS):c.972G>T (p.Leu324=)
NM_170784.3(MKKS):c.985+13C>G
NM_170784.3(MKKS):c.985+13_985+14del rs2122233659
NM_170784.3(MKKS):c.985+20T>C
NM_170784.3(MKKS):c.985+7A>G
NM_170784.3(MKKS):c.985+9C>T
NM_170784.3(MKKS):c.986-10del
NM_170784.3(MKKS):c.986-13C>T
NM_170784.3(MKKS):c.986-19T>C
NM_170784.3(MKKS):c.986-9A>G
NM_170784.3(MKKS):c.987A>G (p.Gly329=)
NM_170784.3(MKKS):c.993G>A (p.Gln331=)
NM_170784.3(MKKS):c.9T>G (p.Arg3=)

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