ClinVar Miner

List of variants reported as likely benign for Pfeiffer syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 282
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HGVS dbSNP gnomAD frequency
NM_023110.3(FGFR1):c.2361G>A (p.Thr787=) rs200408837 0.00058
NM_023110.3(FGFR1):c.1368G>T (p.Met456Ile) rs200776757 0.00044
NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr) rs121909633 0.00040
NM_023110.3(FGFR1):c.177C>T (p.Asp59=) rs367880371 0.00035
NM_023110.3(FGFR1):c.1431-5G>A rs201773631 0.00033
NM_023110.3(FGFR1):c.359-4A>G rs185233212 0.00027
NM_023110.3(FGFR1):c.2464C>T (p.Arg822Cys) rs17182463 0.00025
NM_023110.3(FGFR1):c.168G>A (p.Arg56=) rs147482922 0.00021
NM_023110.3(FGFR1):c.321G>A (p.Ser107=) rs200846866 0.00018
NM_023110.3(FGFR1):c.1082-13C>T rs185831613 0.00015
NM_023110.3(FGFR1):c.1977+10G>A rs770318743 0.00015
NM_023110.3(FGFR1):c.1386G>A (p.Glu462=) rs375796487 0.00014
NM_023110.3(FGFR1):c.2298C>T (p.Tyr766=) rs376173540 0.00013
NM_023110.3(FGFR1):c.241A>G (p.Ile81Val) rs201574031 0.00013
NM_023110.3(FGFR1):c.2186+8C>T rs372639138 0.00011
NM_023110.3(FGFR1):c.394G>A (p.Asp132Asn) rs562958780 0.00011
NM_023110.3(FGFR1):c.92-13G>A rs373032952 0.00011
NM_023110.3(FGFR1):c.1409G>T (p.Arg470Leu) rs121909637 0.00010
NM_023110.3(FGFR1):c.1978-8del rs112311314 0.00009
NM_023110.3(FGFR1):c.273C>T (p.Ser91=) rs201823433 0.00009
NM_023110.3(FGFR1):c.303C>T (p.Cys101=) rs142638017 0.00009
NM_023110.3(FGFR1):c.69G>A (p.Pro23=) rs369704492 0.00009
NM_023110.3(FGFR1):c.921T>C (p.Tyr307=) rs377010221 0.00009
NM_023110.3(FGFR1):c.211G>T (p.Val71Leu) rs561300213 0.00008
NM_023110.3(FGFR1):c.1186G>A (p.Val396Ile) rs752627281 0.00007
NM_023110.3(FGFR1):c.745+7G>A rs202096944 0.00007
NM_023110.3(FGFR1):c.2049-13C>T rs756845879 0.00006
NM_023110.3(FGFR1):c.2430C>T (p.His810=) rs1376789579 0.00006
NM_023110.3(FGFR1):c.358+18G>T rs375458309 0.00006
NM_023110.3(FGFR1):c.746-13C>T rs535174170 0.00006
NM_023110.3(FGFR1):c.207C>T (p.Asp69=) rs145220136 0.00005
NM_023110.3(FGFR1):c.2331C>G (p.Ser777=) rs763571736 0.00005
NM_023110.3(FGFR1):c.350A>G (p.Asn117Ser) rs780765366 0.00005
NM_023110.3(FGFR1):c.937-6T>G rs374904700 0.00005
NM_023110.3(FGFR1):c.1005C>T (p.Asp335=) rs1331582263 0.00004
NM_023110.3(FGFR1):c.1011G>A (p.Gly337=) rs751450359 0.00004
NM_023110.3(FGFR1):c.1431-6C>T rs375706016 0.00004
NM_023110.3(FGFR1):c.2187-5C>T rs770230705 0.00004
NM_023110.3(FGFR1):c.2293-11G>A rs886062919 0.00004
NM_023110.3(FGFR1):c.2400G>A (p.Pro800=) rs780308433 0.00004
NM_023110.3(FGFR1):c.2428C>T (p.His810Tyr) rs759376422 0.00004
NM_023110.3(FGFR1):c.507G>A (p.Pro169=) rs374145904 0.00004
NM_023110.3(FGFR1):c.621+7G>T rs377200873 0.00004
NM_023110.3(FGFR1):c.741C>T (p.Val247=) rs745325958 0.00004
NM_023110.3(FGFR1):c.849G>A (p.Pro283=) rs374583846 0.00004
NM_023110.3(FGFR1):c.937-14G>A rs779223305 0.00004
NM_023110.3(FGFR1):c.937-4C>T rs777156333 0.00004
NM_023110.3(FGFR1):c.1082-20C>T rs777228520 0.00003
NM_023110.3(FGFR1):c.1285-5T>C rs368939581 0.00003
NM_023110.3(FGFR1):c.1663+20G>A rs2150623378 0.00003
NM_023110.3(FGFR1):c.1663+9C>T rs557754125 0.00003
NM_023110.3(FGFR1):c.2049-12G>A rs563601371 0.00003
NM_023110.3(FGFR1):c.2106C>T (p.Pro702=) rs777061347 0.00003
NM_023110.3(FGFR1):c.2163G>A (p.Lys721=) rs375706099 0.00003
NM_023110.3(FGFR1):c.2186+19C>T rs776791517 0.00003
NM_023110.3(FGFR1):c.2186+20G>A rs768832186 0.00003
NM_023110.3(FGFR1):c.262G>T (p.Val88Leu) rs139867599 0.00003
NM_023110.3(FGFR1):c.266A>G (p.Gln89Arg) rs773938208 0.00003
NM_023110.3(FGFR1):c.342C>T (p.Phe114=) rs772837657 0.00003
NM_023110.3(FGFR1):c.456T>C (p.Ala152=) rs369175953 0.00003
NM_023110.3(FGFR1):c.621+19G>A rs945311072 0.00003
NM_023110.3(FGFR1):c.91+20C>T rs367837764 0.00003
NM_023110.3(FGFR1):c.92-20C>T rs559825541 0.00003
NM_023110.3(FGFR1):c.92-6C>G rs370666667 0.00003
NM_023110.3(FGFR1):c.1096C>T (p.Pro366Ser) rs753838219 0.00002
NM_023110.3(FGFR1):c.1178C>T (p.Ser393Leu) rs369059499 0.00002
NM_023110.3(FGFR1):c.1285-20G>A rs779786642 0.00002
NM_023110.3(FGFR1):c.1553-14C>T rs772454262 0.00002
NM_023110.3(FGFR1):c.1663+10G>A rs901498652 0.00002
NM_023110.3(FGFR1):c.1686G>A (p.Glu562=) rs770350711 0.00002
NM_023110.3(FGFR1):c.1809C>T (p.Cys603=) rs377314381 0.00002
NM_023110.3(FGFR1):c.1932C>T (p.Leu644=) rs756586457 0.00002
NM_023110.3(FGFR1):c.1953C>T (p.Ile651=) rs376421301 0.00002
NM_023110.3(FGFR1):c.1977+15G>A rs769572642 0.00002
NM_023110.3(FGFR1):c.2007C>T (p.Pro669=) rs760681522 0.00002
NM_023110.3(FGFR1):c.2046T>C (p.Asp682=) rs749546240 0.00002
NM_023110.3(FGFR1):c.2091C>T (p.Gly697=) rs773144331 0.00002
NM_023110.3(FGFR1):c.2187-4G>A rs764353819 0.00002
NM_023110.3(FGFR1):c.2238C>T (p.Thr746=) rs774683007 0.00002
NM_023110.3(FGFR1):c.2382C>T (p.Ser794=) rs369652756 0.00002
NM_023110.3(FGFR1):c.2406C>T (p.Pro802=) rs573344794 0.00002
NM_023110.3(FGFR1):c.288C>T (p.Ser96=) rs757362905 0.00002
NM_023110.3(FGFR1):c.311G>A (p.Ser104Asn) rs752855457 0.00002
NM_023110.3(FGFR1):c.358+11A>G rs769673310 0.00002
NM_023110.3(FGFR1):c.549C>T (p.Thr183=) rs886062920 0.00002
NM_023110.3(FGFR1):c.937-15C>T rs966338298 0.00002
NM_023110.3(FGFR1):c.1020G>A (p.Thr340=) rs762987116 0.00001
NM_023110.3(FGFR1):c.1044A>C (p.Gly348=) rs773142874 0.00001
NM_023110.3(FGFR1):c.1062A>G (p.Ala354=) rs775398949 0.00001
NM_023110.3(FGFR1):c.1081+8C>G rs778296146 0.00001
NM_023110.3(FGFR1):c.1081+9T>C rs1388610205 0.00001
NM_023110.3(FGFR1):c.1113G>A (p.Ser371=) rs763302356 0.00001
NM_023110.3(FGFR1):c.1179G>A (p.Ser393=) rs374674165 0.00001
NM_023110.3(FGFR1):c.1185C>T (p.Ile395=) rs756104594 0.00001
NM_023110.3(FGFR1):c.1248G>A (p.Lys416=) rs1817956746 0.00001
NM_023110.3(FGFR1):c.1430+13T>C rs763815221 0.00001
NM_023110.3(FGFR1):c.1430+9A>G rs371390925 0.00001
NM_023110.3(FGFR1):c.1449C>T (p.Pro483=) rs755702592 0.00001
NM_023110.3(FGFR1):c.1476G>A (p.Val492=) rs1817294749 0.00001
NM_023110.3(FGFR1):c.147C>T (p.Asp49=) rs1381400802 0.00001
NM_023110.3(FGFR1):c.1492A>G (p.Ile498Val) rs767419329 0.00001
NM_023110.3(FGFR1):c.1552+8A>G rs748881175 0.00001
NM_023110.3(FGFR1):c.1617G>A (p.Gly539=) rs1233846413 0.00001
NM_023110.3(FGFR1):c.1731G>A (p.Arg577=) rs1816410576 0.00001
NM_023110.3(FGFR1):c.1815C>T (p.Tyr605=) rs374740971 0.00001
NM_023110.3(FGFR1):c.1845C>A (p.Ala615=) rs768986378 0.00001
NM_023110.3(FGFR1):c.1854+17C>T rs745533062 0.00001
NM_023110.3(FGFR1):c.1855-5C>T rs1815822505 0.00001
NM_023110.3(FGFR1):c.1855-8T>C rs748049385 0.00001
NM_023110.3(FGFR1):c.1869C>T (p.Asp623=) rs780009859 0.00001
NM_023110.3(FGFR1):c.1875A>G (p.Ala625=) rs772140963 0.00001
NM_023110.3(FGFR1):c.1977+18C>T rs201805975 0.00001
NM_023110.3(FGFR1):c.1977+20C>T rs1815747858 0.00001
NM_023110.3(FGFR1):c.1977+9C>T rs372632166 0.00001
NM_023110.3(FGFR1):c.1978-13G>A rs761708658 0.00001
NM_023110.3(FGFR1):c.1978-16C>T rs764971696 0.00001
NM_023110.3(FGFR1):c.1978-17C>T rs750042204 0.00001
NM_023110.3(FGFR1):c.2048+18A>G rs1340003441 0.00001
NM_023110.3(FGFR1):c.2058C>T (p.Phe686=) rs1193961883 0.00001
NM_023110.3(FGFR1):c.2181C>T (p.Asn727=) rs767613285 0.00001
NM_023110.3(FGFR1):c.2186+18T>G rs764343061 0.00001
NM_023110.3(FGFR1):c.2186+9G>A rs368857820 0.00001
NM_023110.3(FGFR1):c.2271C>T (p.Ile757=) rs369782405 0.00001
NM_023110.3(FGFR1):c.228C>T (p.Ser76=) rs1199849450 0.00001
NM_023110.3(FGFR1):c.2292+12C>T rs371517132 0.00001
NM_023110.3(FGFR1):c.2293-12C>T rs752744088 0.00001
NM_023110.3(FGFR1):c.2367C>T (p.Ser789=) rs770834000 0.00001
NM_023110.3(FGFR1):c.243C>T (p.Ile81=) rs764340351 0.00001
NM_023110.3(FGFR1):c.2451C>T (p.Gly817=) rs1014179319 0.00001
NM_023110.3(FGFR1):c.279C>T (p.Pro93=) rs781034707 0.00001
NM_023110.3(FGFR1):c.27C>T (p.Phe9=) rs971805245 0.00001
NM_023110.3(FGFR1):c.330C>T (p.Asp110=) rs953988029 0.00001
NM_023110.3(FGFR1):c.333C>T (p.Thr111=) rs771522317 0.00001
NM_023110.3(FGFR1):c.33T>C (p.Ala11=) rs202034569 0.00001
NM_023110.3(FGFR1):c.346G>A (p.Val116Ile) rs747842199 0.00001
NM_023110.3(FGFR1):c.358+19C>A rs536559654 0.00001
NM_023110.3(FGFR1):c.359-9T>C rs770811938 0.00001
NM_023110.3(FGFR1):c.386A>C (p.Asp129Ala) rs765615419 0.00001
NM_023110.3(FGFR1):c.39G>A (p.Leu13=) rs760206071 0.00001
NM_023110.3(FGFR1):c.405T>C (p.Ser135=) rs374139613 0.00001
NM_023110.3(FGFR1):c.450C>T (p.Pro150=) rs766091702 0.00001
NM_023110.3(FGFR1):c.51A>G (p.Thr17=) rs886286139 0.00001
NM_023110.3(FGFR1):c.615C>T (p.Gly205=) rs781689191 0.00001
NM_023110.3(FGFR1):c.621+17G>A rs750098882 0.00001
NM_023110.3(FGFR1):c.648A>C (p.Ile216=) rs756132460 0.00001
NM_023110.3(FGFR1):c.663G>T (p.Val221=) rs766451294 0.00001
NM_023110.3(FGFR1):c.708C>T (p.Tyr236=) rs373644620 0.00001
NM_023110.3(FGFR1):c.745+13del rs2537136110 0.00001
NM_023110.3(FGFR1):c.786C>T (p.Pro262=) rs769599671 0.00001
NM_023110.3(FGFR1):c.870A>G (p.Leu290=) rs751538019 0.00001
NM_023110.3(FGFR1):c.891G>A (p.Gly297=) rs774652525 0.00001
NM_023110.3(FGFR1):c.91+16G>C rs1400924729 0.00001
NM_023110.3(FGFR1):c.936+13C>T rs776478746 0.00001
NM_023110.3(FGFR1):c.937-10T>C rs757823303 0.00001
NM_023110.3(FGFR1):c.957C>T (p.Thr319=) rs767160151 0.00001
NM_023110.3(FGFR1):c.1075C>T (p.Leu359=)
NM_023110.3(FGFR1):c.1081+16T>C rs1414301323
NM_023110.3(FGFR1):c.1081+20_1081+22del rs1026713513
NM_023110.3(FGFR1):c.1082-12G>A rs748061953
NM_023110.3(FGFR1):c.112G>A (p.Val38Met) rs377555354
NM_023110.3(FGFR1):c.1167C>T (p.Cys389=) rs1338926241
NM_023110.3(FGFR1):c.1179G>T (p.Ser393=) rs374674165
NM_023110.3(FGFR1):c.1194G>A (p.Lys398=) rs2150709141
NM_023110.3(FGFR1):c.1203T>C (p.Ser401=) rs2150708635
NM_023110.3(FGFR1):c.1239T>C (p.Ala413=) rs1019181684
NM_023110.3(FGFR1):c.1245C>T (p.His415=) rs2150706345
NM_023110.3(FGFR1):c.1272C>T (p.Arg424=) rs2150704598
NM_023110.3(FGFR1):c.1285-16C>G
NM_023110.3(FGFR1):c.1285-8C>A rs1235765985
NM_023110.3(FGFR1):c.1285-8C>G rs1235765985
NM_023110.3(FGFR1):c.1296C>T (p.Asp432=) rs1377886104
NM_023110.3(FGFR1):c.1324C>T (p.Leu442Phe) rs778104598
NM_023110.3(FGFR1):c.1329G>A (p.Leu443=) rs753055493
NM_023110.3(FGFR1):c.1350C>T (p.Ser450=)
NM_023110.3(FGFR1):c.1356T>C (p.Ser452=) rs1817467636
NM_023110.3(FGFR1):c.1359G>C (p.Gly453=)
NM_023110.3(FGFR1):c.141C>G (p.Pro47=) rs553706848
NM_023110.3(FGFR1):c.141C>T (p.Pro47=) rs553706848
NM_023110.3(FGFR1):c.1431-10C>T rs1817315966
NM_023110.3(FGFR1):c.1431-19T>A rs1384929154
NM_023110.3(FGFR1):c.1431-20CT[2] rs774739614
NM_023110.3(FGFR1):c.1431-7C>T rs780383045
NM_023110.3(FGFR1):c.1443C>G (p.Gly481=) rs2150658041
NM_023110.3(FGFR1):c.1443C>T (p.Gly481=) rs2150658041
NM_023110.3(FGFR1):c.1473G>A (p.Gln491=) rs979747766
NM_023110.3(FGFR1):c.1494C>T (p.Ile498=) rs1249233212
NM_023110.3(FGFR1):c.1509C>T (p.Asp503=) rs372521005
NM_023110.3(FGFR1):c.1552+12T>C rs777138222
NM_023110.3(FGFR1):c.1552+16G>T
NM_023110.3(FGFR1):c.162C>G (p.Arg54=) rs753522905
NM_023110.3(FGFR1):c.1663+11dup
NM_023110.3(FGFR1):c.1664-18C>T rs1816451207
NM_023110.3(FGFR1):c.1664-7C>T
NM_023110.3(FGFR1):c.1680C>T (p.Ile560=) rs1019589019
NM_023110.3(FGFR1):c.1689T>C (p.Tyr563=) rs2150591250
NM_023110.3(FGFR1):c.1716C>T (p.Tyr572=) rs1433093151
NM_023110.3(FGFR1):c.1743G>A (p.Leu581=)
NM_023110.3(FGFR1):c.1758C>T (p.Asn586=)
NM_023110.3(FGFR1):c.1770C>T (p.Asn590=) rs2150585961
NM_023110.3(FGFR1):c.182T>C (p.Val61Ala) rs776846726
NM_023110.3(FGFR1):c.1854+14A>C rs2150581089
NM_023110.3(FGFR1):c.1854+9C>T
NM_023110.3(FGFR1):c.1855-14_1855-11del rs751366805
NM_023110.3(FGFR1):c.1944T>C (p.Ile648=)
NM_023110.3(FGFR1):c.1977+12C>G rs1815756809
NM_023110.3(FGFR1):c.1977+19G>A rs776590352
NM_023110.3(FGFR1):c.1978-15C>T rs2150553645
NM_023110.3(FGFR1):c.2048+13T>C rs745585127
NM_023110.3(FGFR1):c.2049-16C>G
NM_023110.3(FGFR1):c.2061G>C (p.Gly687=) rs1478999954
NM_023110.3(FGFR1):c.2067C>T (p.Leu689=)
NM_023110.3(FGFR1):c.2086C>T (p.Leu696=) rs2150535472
NM_023110.3(FGFR1):c.2160C>T (p.Asp720=)
NM_023110.3(FGFR1):c.2186+11G>A rs2150529539
NM_023110.3(FGFR1):c.2186+12_2186+14del rs1218085532
NM_023110.3(FGFR1):c.2186+17G>A
NM_023110.3(FGFR1):c.2187-15A>G rs753215599
NM_023110.3(FGFR1):c.2187-16T>C
NM_023110.3(FGFR1):c.2187-18C>G rs2150525040
NM_023110.3(FGFR1):c.2187-19C>A rs376583717
NM_023110.3(FGFR1):c.2187-19C>T rs376583717
NM_023110.3(FGFR1):c.2187-7G>A
NM_023110.3(FGFR1):c.2205C>T (p.Asp735=)
NM_023110.3(FGFR1):c.222G>A (p.Ala74=) rs748896706
NM_023110.3(FGFR1):c.222G>C (p.Ala74=) rs748896706
NM_023110.3(FGFR1):c.2248C>T (p.Leu750=)
NM_023110.3(FGFR1):c.2259C>T (p.Asp753=) rs771439684
NM_023110.3(FGFR1):c.2283C>T (p.Thr761=)
NM_023110.3(FGFR1):c.2292+13G>A rs756341817
NM_023110.3(FGFR1):c.2292+13G>T
NM_023110.3(FGFR1):c.2292+16C>A
NM_023110.3(FGFR1):c.2292+9G>A rs2150517873
NM_023110.3(FGFR1):c.2293-12C>G rs752744088
NM_023110.3(FGFR1):c.2334C>G (p.Pro778=)
NM_023110.3(FGFR1):c.2370A>G (p.Ser790=) rs1815179968
NM_023110.3(FGFR1):c.2433A>T (p.Pro811=) rs770921947
NM_023110.3(FGFR1):c.256G>A (p.Val86Met) rs1404670039
NM_023110.3(FGFR1):c.279C>G (p.Pro93=) rs781034707
NM_023110.3(FGFR1):c.309C>T (p.Thr103=)
NM_023110.3(FGFR1):c.321G>C (p.Ser107=)
NM_023110.3(FGFR1):c.324C>T (p.Gly108=)
NM_023110.3(FGFR1):c.358+18G>A rs375458309
NM_023110.3(FGFR1):c.358+9C>A rs1164128939
NM_023110.3(FGFR1):c.359-15TTC[2] rs768778460
NM_023110.3(FGFR1):c.359-18C>T rs1177584027
NM_023110.3(FGFR1):c.359-5C>G rs1293360136
NM_023110.3(FGFR1):c.363T>A (p.Ala121=) rs2537215559
NM_023110.3(FGFR1):c.381TGA[5] (p.Asp133del) rs138489552
NM_023110.3(FGFR1):c.411G>A (p.Glu137=) rs1010621186
NM_023110.3(FGFR1):c.42C>T (p.Val14=) rs1016034870
NM_023110.3(FGFR1):c.448+15C>G
NM_023110.3(FGFR1):c.471C>G (p.Ser157=) rs376497452
NM_023110.3(FGFR1):c.501A>C (p.Ala167=)
NM_023110.3(FGFR1):c.525G>A (p.Lys175=)
NM_023110.3(FGFR1):c.534C>T (p.Cys178=)
NM_023110.3(FGFR1):c.546G>A (p.Gly182=)
NM_023110.3(FGFR1):c.597T>C (p.Pro199=) rs2150910609
NM_023110.3(FGFR1):c.621+14C>A rs2537190558
NM_023110.3(FGFR1):c.621+18C>A rs757022668
NM_023110.3(FGFR1):c.621+18C>T
NM_023110.3(FGFR1):c.622-9del rs772431584
NM_023110.3(FGFR1):c.687C>T (p.Thr229=) rs2150861705
NM_023110.3(FGFR1):c.696G>A (p.Val232=)
NM_023110.3(FGFR1):c.711C>T (p.Gly237=) rs2150859814
NM_023110.3(FGFR1):c.714C>T (p.Ser238=) rs1586315279
NM_023110.3(FGFR1):c.745+10C>G
NM_023110.3(FGFR1):c.746-14C>G rs1171714073
NM_023110.3(FGFR1):c.746-14C>T rs1171714073
NM_023110.3(FGFR1):c.746-5C>G rs1820095016
NM_023110.3(FGFR1):c.75G>C (p.Pro25=) rs17175757
NM_023110.3(FGFR1):c.789C>T (p.Ala263=) rs780944776
NM_023110.3(FGFR1):c.805C>T (p.Leu269=)
NM_023110.3(FGFR1):c.819G>C (p.Val273=) rs779056585
NM_023110.3(FGFR1):c.861C>T (p.Ile287=) rs1370490922
NM_023110.3(FGFR1):c.91+19G>T rs1353752166
NM_023110.3(FGFR1):c.92-13G>T rs373032952
NM_023110.3(FGFR1):c.92-19G>C rs753723806
NM_023110.3(FGFR1):c.936+7A>G rs1242119924
NM_023110.3(FGFR1):c.937-11G>T rs1818963167
NM_023110.3(FGFR1):c.937-17T>C rs2537025001
NM_023110.3(FGFR1):c.954C>T (p.Thr318=)
NM_023110.3(FGFR1):c.957C>G (p.Thr319=) rs767160151

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