List of variants in gene FRAS1 reported as likely pathogenic for cryptophthalmia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_025074.7(FRAS1):c.4843+2T>C	rs370018000	0.00004
NM_025074.7(FRAS1):c.5370C>G (p.Tyr1790Ter)	rs757311669	0.00003
NM_025074.7(FRAS1):c.2719C>T (p.Gln907Ter)	rs755750961	0.00001
NM_025074.7(FRAS1):c.6010G>A (p.Gly2004Ser)	rs771251344	0.00001
NM_025074.7(FRAS1):c.7084C>T (p.Arg2362Ter)	rs777438557	0.00001
NM_025074.7(FRAS1):c.934C>T (p.Gln312Ter)	rs377137481	0.00001
NC_000004.11:g.(79362452_79366675)_(79366867_79367880)del
NM_025074.7(FRAS1):c.10540+3A>G
NM_025074.7(FRAS1):c.11445+5_11445+11delinsC	rs1721982733
NM_025074.7(FRAS1):c.1226dup (p.Gln411fs)	rs1727403682
NM_025074.7(FRAS1):c.13A>T (p.Lys5Ter)
NM_025074.7(FRAS1):c.1931del (p.Gly644fs)	rs794727195
NM_025074.7(FRAS1):c.2811T>A (p.Cys937Ter)	rs936338537
NM_025074.7(FRAS1):c.2869+1G>A	rs1731436153
NM_025074.7(FRAS1):c.2894G>T (p.Cys965Phe)	rs1325190118
NM_025074.7(FRAS1):c.3152-2A>G
NM_025074.7(FRAS1):c.3631C>T (p.Gln1211Ter)	rs2110325478
NM_025074.7(FRAS1):c.382C>T (p.Gln128Ter)
NM_025074.7(FRAS1):c.3975+1G>C
NM_025074.7(FRAS1):c.4183C>T (p.Gln1395Ter)	rs1733155852
NM_025074.7(FRAS1):c.4623C>A (p.Tyr1541Ter)
NM_025074.7(FRAS1):c.5125C>T (p.Arg1709Ter)	rs775517752
NM_025074.7(FRAS1):c.5218-1G>T
NM_025074.7(FRAS1):c.5857-5A>G	rs1718842724
NM_025074.7(FRAS1):c.604-1G>C
NM_025074.7(FRAS1):c.6342del (p.Met2115fs)	rs2109834757
NM_025074.7(FRAS1):c.6433C>T (p.Arg2145Ter)	rs756005814
NM_025074.7(FRAS1):c.7258-2A>G
NM_025074.7(FRAS1):c.9123_9124del (p.Thr3041_Ile3042insTer)	rs1263546070
NM_025074.7(FRAS1):c.9575del (p.Pro3192fs)

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