ClinVar Miner

List of variants reported as likely pathogenic for Fraser syndrome 1

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Total variants: 40
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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.8604+5G>A rs200282443 0.00003
NM_025074.7(FRAS1):c.10948C>T (p.Gln3650Ter) rs878853009 0.00001
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
NM_207361.6(FREM2):c.6727C>T (p.Arg2243Ter) rs767978562 0.00001
NM_207361.6(FREM2):c.8176+2dup rs779126010 0.00001
NC_000004.11:g.(79362452_79366675)_(79366867_79367880)del
NM_001366722.1(GRIP1):c.10_13del (p.Val4fs)
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)
NM_207361.6(FREM2):c.2833del (p.His945fs) rs759257554
NM_207361.6(FREM2):c.3761T>A (p.Leu1254Ter)
NM_207361.6(FREM2):c.6350_6351del (p.Thr2117fs) rs752032044
NM_207361.6(FREM2):c.6625dup (p.Tyr2209fs) rs2137911471
NM_207361.6(FREM2):c.8082dup (p.Asp2695Ter)

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