ClinVar Miner

List of variants reported as likely pathogenic for craniosynostosis by Invitae

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 112
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_052989.3(IFT122):c.272+1G>A rs372483083 0.00007
NM_020779.4(WDR35):c.2415-2A>G rs143550695 0.00005
NM_020779.4(WDR35):c.1255+1G>A rs371669862 0.00004
NM_052989.3(IFT122):c.3031G>C (p.Ala1011Pro) rs199622112 0.00004
NM_004260.4(RECQL4):c.1259-1G>A rs372380880 0.00003
NM_004260.4(RECQL4):c.3393+2T>G rs557284122 0.00002
NM_004260.4(RECQL4):c.3394-1G>C rs752301125 0.00002
NM_052989.3(IFT122):c.1148-1G>C rs755005244 0.00002
NM_004260.4(RECQL4):c.1132-1G>A rs751503394 0.00001
NM_004260.4(RECQL4):c.1704+2T>C rs772896860 0.00001
NM_004260.4(RECQL4):c.1913T>C (p.Leu638Pro) rs977450143 0.00001
NM_004260.4(RECQL4):c.2463+1G>A rs1295396384 0.00001
NM_004260.4(RECQL4):c.2755+1G>A rs373130543 0.00001
NM_004260.4(RECQL4):c.3056-2A>C rs786200889 0.00001
NM_004260.4(RECQL4):c.3236+1G>A rs1327061374 0.00001
NC_000008.10:g.(?_145738591)_(145742902_?)dup
NC_000008.10:g.(?_145739619)_(145739814_?)del
NM_000474.4(TWIST1):c.329G>C (p.Arg110Pro) rs1085307555
NM_000474.4(TWIST1):c.346C>G (p.Arg116Gly) rs1554442019
NM_000474.4(TWIST1):c.358C>G (p.Arg120Gly) rs1233220987
NM_000474.4(TWIST1):c.415C>T (p.Pro139Ser) rs2115396651
NM_000474.4(TWIST1):c.416C>T (p.Pro139Leu) rs1788580776
NM_000474.4(TWIST1):c.419C>T (p.Ser140Leu) rs1554441987
NM_000474.4(TWIST1):c.443C>T (p.Thr148Ile) rs1788580077
NM_000474.4(TWIST1):c.455C>T (p.Ala152Val)
NM_000474.4(TWIST1):c.466A>G (p.Ile156Val) rs104894059
NM_000474.4(TWIST1):c.472T>C (p.Phe158Leu) rs2115396574
NM_000474.4(TWIST1):c.474C>G (p.Phe158Leu) rs2115396572
NM_001006657.2(WDR35):c.1195-2A>T
NM_001271938.2(MEGF8):c.1784_1788+3del
NM_001271938.2(MEGF8):c.3761+2T>C
NM_003036.4(SKI):c.104C>A (p.Pro35Gln) rs397514589
NM_003036.4(SKI):c.350G>A (p.Gly117Asp) rs2100790073
NM_003036.4(SKI):c.68A>C (p.Gln23Pro) rs1557806222
NM_004260.4(RECQL4):c.1131+1G>A rs1050860620
NM_004260.4(RECQL4):c.1131+2_1131+5del
NM_004260.4(RECQL4):c.1132-2A>G
NM_004260.4(RECQL4):c.118+2T>C rs1586834813
NM_004260.4(RECQL4):c.119-2A>C rs1815370807
NM_004260.4(RECQL4):c.119-2A>G
NM_004260.4(RECQL4):c.1258+1G>A rs2130711906
NM_004260.4(RECQL4):c.1390+1G>A
NM_004260.4(RECQL4):c.1483+1G>A rs1827970204
NM_004260.4(RECQL4):c.1614_1620+14del
NM_004260.4(RECQL4):c.1620+1G>A rs2130702516
NM_004260.4(RECQL4):c.1621-2A>G
NM_004260.4(RECQL4):c.1704+1G>A rs760363252
NM_004260.4(RECQL4):c.1704+2T>G
NM_004260.4(RECQL4):c.1705-1G>A rs569948031
NM_004260.4(RECQL4):c.1705-1G>C rs569948031
NM_004260.4(RECQL4):c.1705-1del
NM_004260.4(RECQL4):c.1879-1G>A
NM_004260.4(RECQL4):c.2058+2T>G rs2130689994
NM_004260.4(RECQL4):c.214-2A>G
NM_004260.4(RECQL4):c.2200+1G>A
NM_004260.4(RECQL4):c.2200+1G>T
NM_004260.4(RECQL4):c.2200+2T>C rs768749064
NM_004260.4(RECQL4):c.2201-1G>A
NM_004260.4(RECQL4):c.2463+2T>C rs2130676059
NM_004260.4(RECQL4):c.2756-1G>A rs1564791894
NM_004260.4(RECQL4):c.2866_2885+19del rs1554897134
NM_004260.4(RECQL4):c.2878_2885+14del
NM_004260.4(RECQL4):c.2885+1G>T rs1176959485
NM_004260.4(RECQL4):c.3055+1G>A rs368585080
NM_004260.4(RECQL4):c.3055+1del rs1586794620
NM_004260.4(RECQL4):c.3055+2T>C rs2130661643
NM_004260.4(RECQL4):c.3056-1G>A
NM_004260.4(RECQL4):c.3056-1G>T
NM_004260.4(RECQL4):c.3056-2A>G
NM_004260.4(RECQL4):c.3056-4_3069del
NM_004260.4(RECQL4):c.3236+1G>C
NM_004260.4(RECQL4):c.3236G>T (p.Ser1079Ile) rs2130657545
NM_004260.4(RECQL4):c.3237-1G>A rs1586791945
NM_004260.4(RECQL4):c.3237-2A>G
NM_004260.4(RECQL4):c.3393+1G>A rs1586790519
NM_004260.4(RECQL4):c.3393+61_3461delinsAG
NM_004260.4(RECQL4):c.3394-1G>A rs752301125
NM_004260.4(RECQL4):c.355-1G>A
NM_004260.4(RECQL4):c.355-1G>T rs1815108719
NM_004260.4(RECQL4):c.84+1G>A rs1815425378
NM_004260.4(RECQL4):c.84+2T>G
NM_004260.4(RECQL4):c.85-2A>G rs1227874093
NM_006494.4(ERF):c.110T>C (p.Leu37Pro) rs2036426238
NM_006494.4(ERF):c.1306_1309dup (p.Glu437fs) rs2146948133
NM_016277.5(RAB23):c.156-1G>C rs373724159
NM_016277.5(RAB23):c.174_241+587delinsTTATCATTAA
NM_016277.5(RAB23):c.358_398+177delinsGGTGTACAGTTG rs2127998544
NM_016277.5(RAB23):c.481+1G>A
NM_016277.5(RAB23):c.482-1_486del rs2127997697
NM_020779.4(WDR35):c.1255+1G>C rs371669862
NM_020779.4(WDR35):c.1525-2A>T
NM_020779.4(WDR35):c.1846-30_1848del rs1553317813
NM_020779.4(WDR35):c.504T>A (p.Ser168Arg) rs397515536
NM_020779.4(WDR35):c.570+2T>G
NM_023110.3(FGFR1):c.1081+1G>A
NM_023110.3(FGFR1):c.1081G>C (p.Ala361Pro)
NM_023110.3(FGFR1):c.1592A>G (p.Glu531Gly) rs1817052708
NM_023110.3(FGFR1):c.1791_1820del (p.Lys598_Val607del)
NM_023110.3(FGFR1):c.1855-2A>G
NM_023110.3(FGFR1):c.2016A>T (p.Leu672Phe)
NM_023110.3(FGFR1):c.2049-1G>A
NM_023110.3(FGFR1):c.2234C>T (p.Pro745Leu)
NM_023110.3(FGFR1):c.232C>T (p.Arg78Cys) rs1554570706
NM_023110.3(FGFR1):c.289G>C (p.Gly97Arg) rs1260404537
NM_023110.3(FGFR1):c.448+1G>A rs376416531
NM_023110.3(FGFR1):c.448+1G>C rs376416531
NM_023110.3(FGFR1):c.449-6G>A
NM_023110.3(FGFR1):c.532T>G (p.Cys178Gly)
NM_023110.3(FGFR1):c.622-2A>G rs2150866757
NM_023110.3(FGFR1):c.745+1G>T
NM_052989.3(IFT122):c.349+1G>A rs1559869525
NM_052989.3(IFT122):c.416+2T>G rs2108101855

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.