ClinVar Miner

List of variants studied for canthal anomaly by Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City

Included ClinVar conditions (57):
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Total variants: 15
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HGVS dbSNP
NM_000356.4(TCOF1):c.3987dup (p.Ser1330fs) rs1561540623
NM_001163817.2(DHCR7):c.1A>G (p.Met1Val) rs104886033
NM_001163817.2(DHCR7):c.289G>A (p.Ala97Thr) rs150563256
NM_001354689.3(RAF1):c.659_660del (p.Ser220fs) rs1575577384
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser) rs397507539
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) rs397507505
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) rs397507529
NM_005633.3(SOS1):c.2316G>C (p.Glu772Asp) rs1176763588
NM_006767.4(LZTR1):c.1585T>C (p.Tyr529His) rs767374538
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_023067.4(FOXL2):c.313_315del (p.Asn105del) rs1057516154

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