ClinVar Miner

List of variants studied for canthal anomaly by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_000356.4(TCOF1):c.3449C>T (p.Ser1150Phe) rs1554079581
NM_000381.4(MID1):c.757-5831A>G rs1555896387
NM_001163817.2(DHCR7):c.1A>G (p.Met1Val) rs104886033
NM_001163817.2(DHCR7):c.278C>T (p.Thr93Met) rs80338853
NM_002834.4(PTPN11):c.959A>G (p.Asn320Ser) rs1398859175
NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys) rs397507506
NM_004333.6(BRAF):c.1387A>G (p.Ile463Val) rs1562957000
NM_005633.3(SOS1):c.1655G>A (p.Arg552Lys) rs397517154
NM_023067.4(FOXL2):c.843_859dup (p.Pro287fs) rs672601359
NM_203290.4(POLR1C):c.364T>A (p.Phe122Ile) rs1554131502

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