ClinVar Miner

List of variants studied for craniosynostosis by Baylor Genetics

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_001271938.2(MEGF8):c.7774G>A (p.Val2592Met) rs148860986 0.00105
NM_001271938.2(MEGF8):c.3010C>T (p.Arg1004Trp) rs141383715 0.00084
NM_004260.4(RECQL4):c.1868G>A (p.Arg623His) rs201734382 0.00070
NM_001271938.2(MEGF8):c.3154T>C (p.Trp1052Arg) rs202039332 0.00060
NM_001271938.2(MEGF8):c.2450A>G (p.His817Arg) rs151116615 0.00039
NM_016277.5(RAB23):c.434T>A (p.Leu145Ter) rs121908171 0.00037
NM_001379081.2(FREM1):c.4412G>A (p.Ser1471Asn) rs200650442 0.00025
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter) rs199952377 0.00019
NM_004260.4(RECQL4):c.2236G>A (p.Ala746Thr) rs758736784 0.00014
NM_004260.4(RECQL4):c.862G>A (p.Gly288Arg) rs199706417 0.00006
NM_004260.4(RECQL4):c.3347C>T (p.Pro1116Leu) rs368671582 0.00005
NM_001271938.2(MEGF8):c.2653G>A (p.Gly885Arg) rs746031284 0.00004
NM_006766.5(KAT6A):c.2791G>A (p.Gly931Arg) rs779101695 0.00004
NM_020779.4(WDR35):c.1637G>A (p.Arg546His) rs529313875 0.00004
NM_001271938.2(MEGF8):c.3260C>T (p.Pro1087Leu) rs781096678 0.00003
NM_020779.4(WDR35):c.3170A>G (p.Tyr1057Cys) rs541910371 0.00003
NM_001271938.2(MEGF8):c.7033A>G (p.Ser2345Gly) rs1016429941 0.00002
NM_020779.4(WDR35):c.3345G>A (p.Leu1115=) rs746128772 0.00002
NM_052989.3(IFT122):c.3068G>A (p.Arg1023His) rs753932809 0.00002
NM_000474.4(TWIST1):c.250G>A (p.Gly84Ser) rs1310233431 0.00001
NM_001271938.2(MEGF8):c.1788+1G>C rs1206116606 0.00001
NM_001271938.2(MEGF8):c.4333C>T (p.Arg1445Cys) rs374942873 0.00001
NM_001271938.2(MEGF8):c.6310G>T (p.Ala2104Ser) rs772768716 0.00001
NM_003036.4(SKI):c.1006A>G (p.Thr336Ala) rs1347876005 0.00001
NM_003036.4(SKI):c.2057C>A (p.Ala686Asp) rs1216955747 0.00001
NM_003036.4(SKI):c.2128T>C (p.Trp710Arg) rs863223728 0.00001
NM_004260.4(RECQL4):c.1078C>T (p.Gln360Ter) rs375236875 0.00001
NM_004260.4(RECQL4):c.3530A>G (p.Tyr1177Cys) rs1341756990 0.00001
NM_004260.4(RECQL4):c.578G>A (p.Arg193Gln) rs747963862 0.00001
NM_006766.5(KAT6A):c.2989C>T (p.Pro997Ser) rs1044282559 0.00001
NM_006766.5(KAT6A):c.5299C>G (p.His1767Asp) rs1821629207 0.00001
NM_207037.2(TCF12):c.1720A>C (p.Lys574Gln) rs1057518720 0.00001
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) rs121918491
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) rs77543610
NM_000141.5(FGFR2):c.870G>T (p.Trp290Cys) rs121918499
NM_000142.5(FGFR3):c.1172C>A (p.Ala391Glu) rs28931615
NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu) rs121913116
NM_001271938.2(MEGF8):c.2843C>G (p.Pro948Arg) rs771693018
NM_001271938.2(MEGF8):c.3964C>T (p.Pro1322Ser)
NM_001271938.2(MEGF8):c.5023C>T (p.His1675Tyr) rs2039479348
NM_001379081.2(FREM1):c.3355G>T (p.Asp1119Tyr) rs753814072
NM_001379081.2(FREM1):c.3694+6G>C rs749794055
NM_003036.4(SKI):c.101G>T (p.Gly34Val) rs387907305
NM_003036.4(SKI):c.103C>T (p.Pro35Ser) rs397514590
NM_003036.4(SKI):c.1328C>T (p.Pro443Leu) rs1640493986
NM_004260.4(RECQL4):c.1150C>G (p.Arg384Gly) rs766026341
NM_004260.4(RECQL4):c.2880C>G (p.Ala960=) rs766684128
NM_005816.5(CD96):c.1390A>G (p.Asn464Asp) rs1939421281
NM_005816.5(CD96):c.1618C>T (p.Pro540Ser) rs1939992902
NM_005816.5(CD96):c.794A>G (p.Asp265Gly) rs1936662124
NM_006494.4(ERF):c.1030C>G (p.Arg344Gly) rs1395870549
NM_006494.4(ERF):c.41G>A (p.Trp14Ter) rs2036427390
NM_006766.5(KAT6A):c.2463del (p.Asn821fs) rs1661324893
NM_006766.5(KAT6A):c.2947G>T (p.Gly983Cys) rs1822089938
NM_006766.5(KAT6A):c.3505C>T (p.Arg1169Ter) rs886042000
NM_006766.5(KAT6A):c.3629C>A (p.Thr1210Asn)
NM_006766.5(KAT6A):c.3778A>G (p.Ser1260Gly) rs774544767
NM_006766.5(KAT6A):c.4229_4230del (p.Lys1410fs)
NM_006766.5(KAT6A):c.4445C>T (p.Pro1482Leu) rs1821690064
NM_006766.5(KAT6A):c.4598T>C (p.Met1533Thr) rs1821679735
NM_006766.5(KAT6A):c.4776GTC[1] (p.Ser1597del) rs779024326
NM_006766.5(KAT6A):c.4960C>A (p.Pro1654Thr) rs1264564304
NM_006766.5(KAT6A):c.5207C>T (p.Pro1736Leu) rs867327550
NM_006766.5(KAT6A):c.5235dup (p.Gln1746fs)
NM_006766.5(KAT6A):c.931C>T (p.Arg311Ter) rs1064793721
NM_019885.4(CYP26B1):c.1333C>T (p.His445Tyr) rs1676614895
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp) rs765513105
NM_020779.4(WDR35):c.2264G>C (p.Arg755Thr)
NM_020779.4(WDR35):c.3058C>T (p.His1020Tyr) rs1553316264
NM_023110.3(FGFR1):c.289G>T (p.Gly97Cys) rs1260404537
NM_023110.3(FGFR1):c.391G>A (p.Asp131Asn) rs1821566729
NM_207037.2(TCF12):c.1838G>A (p.Arg613His)
NM_207037.2(TCF12):c.1876C>T (p.Arg626Ter) rs758543580
NM_207037.2(TCF12):c.801C>T (p.Gly267=) rs2059176608

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