ClinVar Miner

List of variants in gene PTPN11 studied for not specified

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Gene type:
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Total variants: 139
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HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.14+25G>C rs7972574 0.05545
NM_002834.5(PTPN11):c.854-21C>T rs41279090 0.05308
NM_002834.5(PTPN11):c.1093-9C>A rs12301915 0.04151
NM_002834.5(PTPN11):c.255C>T (p.His85=) rs61736914 0.02271
NM_002834.5(PTPN11):c.525+12G>C rs41304351 0.01035
NM_002834.5(PTPN11):c.854-30T>C rs144391508 0.00909
NM_002834.5(PTPN11):c.854-32A>C rs187389813 0.00867
NM_002834.5(PTPN11):c.332+17T>G rs115658366 0.00257
NM_002834.5(PTPN11):c.526-17T>C rs375184329 0.00096
NM_002834.5(PTPN11):c.526-8C>A rs184804143 0.00064
NM_002834.5(PTPN11):c.1448-38G>C rs186280715 0.00060
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616 0.00048
NM_002834.5(PTPN11):c.1379+20C>T rs184743462 0.00047
NM_002834.5(PTPN11):c.643-6dup rs758889732 0.00030
NM_002834.5(PTPN11):c.48A>G (p.Ala16=) rs372736227 0.00029
NM_002834.3(PTPN11):c.*13A>G rs201957261 0.00027
NM_002834.5(PTPN11):c.333-3T>C rs146749153 0.00026
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val) rs201787206 0.00026
NM_002834.5(PTPN11):c.-45T>G rs587781131 0.00018
NM_002834.5(PTPN11):c.1746C>T (p.Asn582=) rs397516800 0.00013
NM_002834.5(PTPN11):c.*50C>T rs730880328 0.00012
NM_002834.5(PTPN11):c.1224+15G>A rs373271861 0.00011
NM_002834.5(PTPN11):c.558G>T (p.Arg186=) rs200920312 0.00011
NM_002834.5(PTPN11):c.137+49A>T rs761259292 0.00010
NM_002834.5(PTPN11):c.1449T>G (p.Gly483=) rs143238917 0.00009
NM_002834.5(PTPN11):c.486C>T (p.Asp162=) rs397507522 0.00009
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797 0.00007
NM_002834.5(PTPN11):c.132C>T (p.Ser44=) rs397507502 0.00006
NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu) rs141140214 0.00006
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg) rs397516805 0.00006
NM_002834.5(PTPN11):c.853+17C>T rs746692191 0.00006
NM_002834.5(PTPN11):c.990A>C (p.Thr330=) rs369739920 0.00005
NM_002834.5(PTPN11):c.1278C>T (p.His426=) rs886038519 0.00004
NM_002834.5(PTPN11):c.1683G>A (p.Pro561=) rs397516798 0.00004
NM_002834.5(PTPN11):c.173A>G (p.Asn58Ser) rs751437780 0.00004
NM_002834.5(PTPN11):c.854-19T>G rs751780145 0.00004
NM_002834.5(PTPN11):c.893A>G (p.Asn298Ser) rs572274623 0.00004
NM_002834.5(PTPN11):c.1282G>A (p.Val428Met) rs397507536 0.00003
NM_002834.5(PTPN11):c.138-4T>G rs959868124 0.00003
NM_002834.5(PTPN11):c.1404G>C (p.Thr468=) rs587781130 0.00003
NM_002834.5(PTPN11):c.1642T>C (p.Ser548Pro) rs1057517907 0.00003
NM_002834.5(PTPN11):c.540C>T (p.Asp180=) rs753269427 0.00003
NM_002834.5(PTPN11):c.556C>T (p.Arg186Trp) rs143433437 0.00003
NM_002834.5(PTPN11):c.824A>C (p.Asn275Thr) rs397507528 0.00003
NM_002834.5(PTPN11):c.879C>T (p.His293=) rs117730996 0.00003
NM_002834.5(PTPN11):c.1162G>A (p.Val388Ile) rs749523268 0.00002
NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala) rs201247699 0.00002
NM_002834.5(PTPN11):c.1551G>A (p.Ala517=) rs727504377 0.00002
NM_002834.5(PTPN11):c.1594G>A (p.Glu532Lys) rs587778634 0.00002
NM_002834.5(PTPN11):c.1649C>T (p.Ala550Val) rs767712281 0.00002
NM_002834.5(PTPN11):c.327T>G (p.Ser109=) rs1039250039 0.00002
NM_002834.5(PTPN11):c.455G>A (p.Arg152His) rs397507521 0.00002
NM_002834.5(PTPN11):c.934-12C>T rs730880990 0.00002
NM_002834.5(PTPN11):c.1011G>A (p.Thr337=) rs371951288 0.00001
NM_002834.5(PTPN11):c.1047C>T (p.Asn349=) rs1222504763 0.00001
NM_002834.5(PTPN11):c.1124A>G (p.Tyr375Cys) rs41299183 0.00001
NM_002834.5(PTPN11):c.1131A>C (p.Leu377=) rs370059077 0.00001
NM_002834.5(PTPN11):c.1161C>T (p.Asn387=) rs727505180 0.00001
NM_002834.5(PTPN11):c.1366G>A (p.Val456Met) rs397516796 0.00001
NM_002834.5(PTPN11):c.1467C>T (p.Asp489=) rs539373294 0.00001
NM_002834.5(PTPN11):c.15-19C>A rs779587904 0.00001
NM_002834.5(PTPN11):c.1579C>T (p.Arg527Cys) rs191525506 0.00001
NM_002834.5(PTPN11):c.1600-11C>G rs1472156150 0.00001
NM_002834.5(PTPN11):c.1620C>T (p.His540=) rs587781132 0.00001
NM_002834.5(PTPN11):c.1650G>A (p.Ala550=) rs374896287 0.00001
NM_002834.5(PTPN11):c.1697C>T (p.Thr566Met) rs150730493 0.00001
NM_002834.5(PTPN11):c.1713-5T>A rs876657964 0.00001
NM_002834.5(PTPN11):c.272A>G (p.Lys91Arg) rs869312744 0.00001
NM_002834.5(PTPN11):c.324C>A (p.Thr108=) rs1352499844 0.00001
NM_002834.5(PTPN11):c.537C>T (p.Tyr179=) rs141015445 0.00001
NM_002834.5(PTPN11):c.642+19T>C rs772465708 0.00001
NM_002834.5(PTPN11):c.642G>A (p.Gln214=) rs876661383 0.00001
NM_002834.5(PTPN11):c.66A>G (p.Thr22=) rs397516808 0.00001
NM_002834.5(PTPN11):c.827A>G (p.Lys276Arg) rs777603059 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_002834.5(PTPN11):c.931A>G (p.Met311Val) rs774939392 0.00001
NM_002834.5(PTPN11):c.951G>A (p.Lys317=) rs576405446 0.00001
NM_002834.5(PTPN11):c.996C>T (p.Gly332=) rs397507533 0.00001
NM_002834.5(PTPN11):c.*41_*46del rs886048967
NM_002834.5(PTPN11):c.-13G>A rs760374212
NM_002834.5(PTPN11):c.-7G>A
NM_002834.5(PTPN11):c.1011G>C (p.Thr337=) rs371951288
NM_002834.5(PTPN11):c.1052G>A (p.Arg351Gln) rs397507534
NM_002834.5(PTPN11):c.1089A>G (p.Gly363=) rs2038535689
NM_002834.5(PTPN11):c.1093A>C (p.Ser365Arg) rs1566183223
NM_002834.5(PTPN11):c.119A>G (p.Asp40Gly) rs397516795
NM_002834.5(PTPN11):c.1221A>G (p.Gly407=) rs532529560
NM_002834.5(PTPN11):c.1225-7A>G rs727504397
NM_002834.5(PTPN11):c.127C>T (p.Leu43Phe) rs1566164987
NM_002834.5(PTPN11):c.1281C>T (p.Gly427=) rs753173299
NM_002834.5(PTPN11):c.1303G>A (p.Val435Met) rs1054802954
NM_002834.5(PTPN11):c.1365C>T (p.Val455=) rs1379099808
NM_002834.5(PTPN11):c.1374C>A (p.His458Gln) rs727504393
NM_002834.5(PTPN11):c.1380-4G>T rs750640531
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr) rs121918468
NM_002834.5(PTPN11):c.1382C>G (p.Ala461Gly) rs397509344
NM_002834.5(PTPN11):c.1448-15_1448-13del rs775920290
NM_002834.5(PTPN11):c.1448-5C>T rs554790621
NM_002834.5(PTPN11):c.1448-8C>T rs1555270633
NM_002834.5(PTPN11):c.148G>A (p.Ala50Thr) rs587778636
NM_002834.5(PTPN11):c.1495T>A (p.Ser499Thr) rs1566186813
NM_002834.5(PTPN11):c.1496C>T (p.Ser499Phe)
NM_002834.5(PTPN11):c.1499A>G (p.Gln500Arg) rs1173984843
NM_002834.5(PTPN11):c.1506A>G (p.Ser502=)
NM_002834.5(PTPN11):c.1530G>T (p.Gln510His)
NM_002834.5(PTPN11):c.1660A>G (p.Ser554Gly) rs2135928795
NM_002834.5(PTPN11):c.1669C>A (p.Gln557Lys) rs1024227490
NM_002834.5(PTPN11):c.1698G>A (p.Thr566=)
NM_002834.5(PTPN11):c.1724A>G (p.Asp575Gly) rs397516799
NM_002834.5(PTPN11):c.1741G>A (p.Glu581Lys) rs2135930858
NM_002834.5(PTPN11):c.231G>A (p.Leu77=) rs2038063935
NM_002834.5(PTPN11):c.315A>T (p.Ala105=) rs397516804
NM_002834.5(PTPN11):c.329A>C (p.Glu110Ala) rs397507519
NM_002834.5(PTPN11):c.329A>G (p.Glu110Gly) rs397507519
NM_002834.5(PTPN11):c.333-19del rs766492276
NM_002834.5(PTPN11):c.333-4T>C rs1555267812
NM_002834.5(PTPN11):c.348T>A (p.His116Gln) rs1482410266
NM_002834.5(PTPN11):c.363A>G (p.Glu121=) rs2135866636
NM_002834.5(PTPN11):c.36T>C (p.Thr12=) rs760086740
NM_002834.5(PTPN11):c.372A>G (p.Lys124=) rs1035774225
NM_002834.5(PTPN11):c.381T>C (p.Thr127=) rs757004128
NM_002834.5(PTPN11):c.519C>G (p.Arg173=) rs767425313
NM_002834.5(PTPN11):c.526-11T>C rs1555267925
NM_002834.5(PTPN11):c.526-33_526-31del rs142777663
NM_002834.5(PTPN11):c.53A>G (p.Asn18Ser) rs587778635
NM_002834.5(PTPN11):c.561T>G (p.Phe187Leu) rs2135869491
NM_002834.5(PTPN11):c.562G>A (p.Asp188Asn) rs1555267939
NM_002834.5(PTPN11):c.624A>G (p.Thr208=) rs864622409
NM_002834.5(PTPN11):c.652A>G (p.Thr218Ala) rs768555552
NM_002834.5(PTPN11):c.661A>T (p.Ile221Leu) rs397516806
NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg) rs397507523
NM_002834.5(PTPN11):c.774G>T (p.Glu258Asp) rs397516809
NM_002834.5(PTPN11):c.831T>C (p.Asn277=) rs876657567
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.5(PTPN11):c.853+4A>C
NM_002834.5(PTPN11):c.858T>A (p.Asp286Glu) rs397516811
NM_002834.5(PTPN11):c.862A>G (p.Thr288Ala) rs2135900982
NM_002834.5(PTPN11):c.880G>A (p.Asp294Asn)
NM_002834.5(PTPN11):c.971A>G (p.Lys324Arg) rs772684421

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