List of variants reported as likely benign for TWIST1-related craniosynostosis by Invitae

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		ClinVar version:

Total variants: 40

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HGVS	dbSNP	gnomAD frequency
NM_000474.4(TWIST1):c.94G>A (p.Gly32Ser)	rs878852992	0.00102
NM_006494.4(ERF):c.1057A>G (p.Met353Val)	rs149405304	0.00085
NM_000474.4(TWIST1):c.420G>C (p.Ser140=)	rs73079389	0.00046
NM_006494.4(ERF):c.1262C>T (p.Pro421Leu)	rs533363033	0.00043
NM_006494.4(ERF):c.659C>A (p.Pro220His)	rs200767779	0.00043
NM_000474.4(TWIST1):c.247G>A (p.Gly83Ser)	rs545987863	0.00036
NM_006494.4(ERF):c.257+8C>T	rs137956794	0.00033
NM_006494.4(ERF):c.264C>T (p.Tyr88=)	rs140522983	0.00022
NM_006494.4(ERF):c.1263G>C (p.Pro421=)	rs750423382	0.00009
NM_006494.4(ERF):c.1152C>T (p.Leu384=)	rs772786203	0.00005
NM_006494.4(ERF):c.36G>A (p.Pro12=)	rs371076249	0.00005
NM_006494.4(ERF):c.885C>T (p.Ser295=)	rs758048419	0.00005
NM_006494.4(ERF):c.1461C>T (p.Arg487=)	rs371796869	0.00004
NM_006494.4(ERF):c.450C>T (p.Ser150=)	rs747218945	0.00004
NM_006494.4(ERF):c.819C>T (p.Thr273=)	rs200872722	0.00003
NM_006494.4(ERF):c.1052C>T (p.Pro351Leu)	rs376130330	0.00002
NM_000474.4(TWIST1):c.546G>T (p.Arg182=)	rs115322362	0.00001
NM_006494.4(ERF):c.247C>A (p.Arg83=)	rs766762597	0.00001
NM_006494.4(ERF):c.824T>C (p.Leu275Pro)	rs756557668	0.00001
NM_000474.4(TWIST1):c.180C>T (p.Val60=)	rs565371578
NM_000474.4(TWIST1):c.245GCG[6] (p.Gly86dup)	rs754552080
NM_000474.4(TWIST1):c.264C>T (p.Gly88=)
NM_000474.4(TWIST1):c.309C>T (p.Tyr103=)
NM_000474.4(TWIST1):c.33G>T (p.Ser11=)	rs1554442101
NM_000474.4(TWIST1):c.51G>C (p.Leu17=)
NM_000474.4(TWIST1):c.600G>C (p.Ala200=)
NM_006494.4(ERF):c.1104TTC[3] (p.Ser373del)	rs199960550
NM_006494.4(ERF):c.1143G>T (p.Pro381=)
NM_006494.4(ERF):c.1191C>T (p.Ala397=)
NM_006494.4(ERF):c.1386A>G (p.Ala462=)
NM_006494.4(ERF):c.1602C>T (p.Leu534=)	rs2146947253
NM_006494.4(ERF):c.23-9C>T
NM_006494.4(ERF):c.234C>T (p.Tyr78=)
NM_006494.4(ERF):c.374-16G>A
NM_006494.4(ERF):c.477C>A (p.Pro159=)
NM_006494.4(ERF):c.565T>G (p.Cys189Gly)
NM_006494.4(ERF):c.597G>A (p.Pro199=)	rs778540681
NM_006494.4(ERF):c.762C>T (p.Ala254=)
NM_006494.4(ERF):c.813G>A (p.Thr271=)	rs367694248
NM_006494.4(ERF):c.823C>T (p.Leu275=)

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