ClinVar Miner

List of variants in gene FRAS1 reported as likely pathogenic for not provided

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_025074.7(FRAS1):c.4843+2T>C rs370018000 0.00004
NM_025074.7(FRAS1):c.10261C>T (p.Arg3421Ter) rs201947516 0.00003
NM_025074.7(FRAS1):c.11298+1G>A rs371268544 0.00003
NM_025074.7(FRAS1):c.3010+1G>A rs574631014 0.00002
NM_025074.7(FRAS1):c.1724G>A (p.Cys575Tyr) rs1131691462 0.00001
NM_025074.7(FRAS1):c.2719C>T (p.Gln907Ter) rs755750961 0.00001
NM_025074.7(FRAS1):c.2722+1G>A rs794727365 0.00001
NM_025074.7(FRAS1):c.6584-2A>G rs1427532570 0.00001
NM_025074.7(FRAS1):c.10175-1G>A
NM_025074.7(FRAS1):c.1071+1G>T
NM_025074.7(FRAS1):c.1072-1G>C
NM_025074.7(FRAS1):c.11473C>T (p.Gln3825Ter) rs765622092
NM_025074.7(FRAS1):c.11544del (p.Arg3849fs) rs776789412
NM_025074.7(FRAS1):c.1256-2A>G
NM_025074.7(FRAS1):c.1960+2T>A
NM_025074.7(FRAS1):c.2575+2T>G
NM_025074.7(FRAS1):c.3006_3010+7del rs765291607
NM_025074.7(FRAS1):c.309+1G>A
NM_025074.7(FRAS1):c.310-1G>A
NM_025074.7(FRAS1):c.3152-2A>G
NM_025074.7(FRAS1):c.3675del (p.Leu1226fs) rs1233923207
NM_025074.7(FRAS1):c.3973C>T (p.Gln1325Ter) rs1578291638
NM_025074.7(FRAS1):c.3975+2T>C
NM_025074.7(FRAS1):c.469+1G>A
NM_025074.7(FRAS1):c.4711+2T>A
NM_025074.7(FRAS1):c.4843+1G>T
NM_025074.7(FRAS1):c.4969+2T>G
NM_025074.7(FRAS1):c.5125C>T (p.Arg1709Ter) rs775517752
NM_025074.7(FRAS1):c.5366+2T>G
NM_025074.7(FRAS1):c.5423_5424del (p.Ser1808fs) rs1553960137
NM_025074.7(FRAS1):c.603+1G>A
NM_025074.7(FRAS1):c.6111_6274+38del
NM_025074.7(FRAS1):c.6275-1G>T
NM_025074.7(FRAS1):c.6584-1G>T
NM_025074.7(FRAS1):c.7371+2T>C rs2109850407
NM_025074.7(FRAS1):c.7522+1G>T rs730882180
NM_025074.7(FRAS1):c.7522+2_7522+4del rs1719735626
NM_025074.7(FRAS1):c.76+1G>A rs1739558635
NM_025074.7(FRAS1):c.7851+1G>A
NM_025074.7(FRAS1):c.789+1G>A
NM_025074.7(FRAS1):c.8098+1G>T rs376088537
NM_025074.7(FRAS1):c.8098+2T>A rs786205570
NM_025074.7(FRAS1):c.8353del (p.Val2785fs)
NM_025074.7(FRAS1):c.8403_8404del (p.Ser2802fs) rs876661304
NM_025074.7(FRAS1):c.8958+2T>C
NM_025074.7(FRAS1):c.8959-2A>G
NM_025074.7(FRAS1):c.981+2T>C
NM_025074.7(FRAS1):c.982-1G>A
NM_025074.7(FRAS1):c.982-2A>C

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