ClinVar Miner

List of variants in gene FGFR3 studied for Craniosynostosis syndrome

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Total variants: 94
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HGVS dbSNP
NM_000142.4(FGFR3):c.1075+5C>T rs3135885
NM_000142.4(FGFR3):c.1267-8C>T rs1553847171
NM_000142.4(FGFR3):c.1513G>A (p.Val505Ile) rs144546453
NM_000142.4(FGFR3):c.1534+6G>C rs1213940166
NM_000142.4(FGFR3):c.1535-8G>T rs111460786
NM_000142.4(FGFR3):c.154G>A (p.Gly52Ser) rs140087676
NM_000142.4(FGFR3):c.1645+4G>C rs1367336734
NM_000142.4(FGFR3):c.1645+8C>T rs372987620
NM_000142.4(FGFR3):c.1645+9G>A rs376263017
NM_000142.4(FGFR3):c.1719G>A (p.Pro573=) rs772157613
NM_000142.4(FGFR3):c.1899C>T (p.Ile633=) rs748492424
NM_000142.4(FGFR3):c.192C>T (p.Pro64=) rs766462409
NM_000142.4(FGFR3):c.1959+8C>T rs371666188
NM_000142.4(FGFR3):c.1960-7C>T rs779177992
NM_000142.4(FGFR3):c.2275-3C>T rs770863154
NM_000142.4(FGFR3):c.2331C>T (p.Thr777=) rs189264142
NM_000142.4(FGFR3):c.2412G>A (p.Ser804=) rs375563964
NM_000142.4(FGFR3):c.436_445+2del rs1030059712
NM_000142.4(FGFR3):c.445+2_445+5del rs756854039
NM_000142.4(FGFR3):c.445+3A>G rs3135868
NM_000142.4(FGFR3):c.446-5C>T rs144211980
NM_000142.4(FGFR3):c.513C>T (p.Thr171=) rs373209526
NM_000142.4(FGFR3):c.615+6C>A rs2305182
NM_000142.4(FGFR3):c.615+8C>G rs17878375
NM_000142.4(FGFR3):c.713G>A (p.Arg238Gln) rs199944818
NM_000142.4(FGFR3):c.775C>T (p.Leu259=) rs765971064
NM_000142.4(FGFR3):c.879G>C (p.Val293=) rs757808716
NM_000142.5(FGFR3):c.1014C>T (p.Thr338=) rs4647928
NM_000142.5(FGFR3):c.1052C>G (p.Ser351Cys) rs1057517964
NM_000142.5(FGFR3):c.1052C>T (p.Ser351Phe) rs1057517964
NM_000142.5(FGFR3):c.1106C>T (p.Ala369Val)
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.5(FGFR3):c.1138G>A rs28931614
NM_000142.5(FGFR3):c.1138G>C (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656
NM_000142.5(FGFR3):c.1172C>A (p.Ala391Glu) rs28931615
NM_000142.5(FGFR3):c.1181C>T (p.Thr394Met) rs747694886
NM_000142.5(FGFR3):c.1190G>A (p.Arg397His)
NM_000142.5(FGFR3):c.1223C>T (p.Ser408Phe) rs761877926
NM_000142.5(FGFR3):c.1238A>G (p.Lys413Arg)
NM_000142.5(FGFR3):c.1290C>T (p.Ser430=) rs3135891
NM_000142.5(FGFR3):c.1345C>T (p.Pro449Ser) rs61735104
NM_000142.5(FGFR3):c.1349C>T (p.Thr450Met) rs56240927
NM_000142.5(FGFR3):c.1371C>T (p.Leu457=) rs199758988
NM_000142.5(FGFR3):c.1379C>T (p.Pro460Leu)
NM_000142.5(FGFR3):c.1497C>T (p.Ala499=) rs140594137
NM_000142.5(FGFR3):c.1550A>G (p.Lys517Arg) rs139707740
NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys) rs28933068
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) rs28933068
NM_000142.5(FGFR3):c.1647G>T (p.Gly549=) rs3135897
NM_000142.5(FGFR3):c.169G>A (p.Val57Met) rs61735064
NM_000142.5(FGFR3):c.1733C>T (p.Ser578Phe) rs989826317
NM_000142.5(FGFR3):c.1742C>T (p.Thr581Ile)
NM_000142.5(FGFR3):c.1862G>A (p.Arg621His) rs121913113
NM_000142.5(FGFR3):c.188C>G (p.Pro63Arg) rs371729802
NM_000142.5(FGFR3):c.1923C>T (p.Asp641=) rs148104605
NM_000142.5(FGFR3):c.193G>A (p.Gly65Arg) rs2305178
NM_000142.5(FGFR3):c.1948A>C (p.Lys650Gln) rs78311289
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) rs121913105
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) rs28928868
NM_000142.5(FGFR3):c.1953= (p.Thr651=) rs7688609
NM_000142.5(FGFR3):c.1993G>T (p.Ala665Ser) rs764892330
NM_000142.5(FGFR3):c.2005C>G (p.Arg669Gly) rs1490564667
NM_000142.5(FGFR3):c.201T>C (p.Gly67=) rs752621056
NM_000142.5(FGFR3):c.2043G>A (p.Gly681=) rs17883356
NM_000142.5(FGFR3):c.2088C>T (p.Pro696=) rs142884145
NM_000142.5(FGFR3):c.2149G>A (p.Ala717Thr) rs17882190
NM_000142.5(FGFR3):c.2150C>T (p.Ala717Val) rs749192018
NM_000142.5(FGFR3):c.2205C>G (p.Pro735=) rs145020302
NM_000142.5(FGFR3):c.2294C>T (p.Ala765Val) rs140211846
NM_000142.5(FGFR3):c.2413C>T (p.Arg805Trp) rs369758941
NM_000142.5(FGFR3):c.2420G>T (p.Ter807Leu) rs397515514
NM_000142.5(FGFR3):c.252G>A (p.Ser84=) rs367973461
NM_000142.5(FGFR3):c.348C>T (p.Arg116=) rs2305179
NM_000142.5(FGFR3):c.393G>A (p.Ser131=) rs55662109
NM_000142.5(FGFR3):c.417C>T (p.Asp139=) rs3135867
NM_000142.5(FGFR3):c.433G>A (p.Gly145Ser)
NM_000142.5(FGFR3):c.518G>A (p.Arg173His) rs1441656357
NM_000142.5(FGFR3):c.588C>T (p.Arg196=) rs2305180
NM_000142.5(FGFR3):c.654G>C (p.Val218=) rs147769045
NM_000142.5(FGFR3):c.663G>A (p.Ser221=) rs114421370
NM_000142.5(FGFR3):c.667C>T (p.Arg223Cys)
NM_000142.5(FGFR3):c.678C>T (p.Tyr226=) rs141575580
NM_000142.5(FGFR3):c.712C>T (p.Arg238Trp) rs766423062
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000142.5(FGFR3):c.749C>T (p.Pro250Leu) rs4647924
NM_000142.5(FGFR3):c.771G>A (p.Ala257=) rs138334098
NM_000142.5(FGFR3):c.77G>A (p.Gly26Glu) rs1221876688
NM_000142.5(FGFR3):c.807C>T (p.Ser269=) rs199614237
NM_000142.5(FGFR3):c.916G>A (p.Val306Ile) rs774047997
NM_000142.5(FGFR3):c.989C>T (p.Thr330Ile)
NM_000142.5(FGFR3):c.990C>T (p.Thr330=) rs2305185
NM_001163213.1(FGFR3):c.746C>G (p.Ser249Cys) rs121913483

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