ClinVar Miner

List of variants studied for canthal anomaly by Johns Hopkins Genomics, Johns Hopkins University

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000356.4(TCOF1):c.2565_2566del (p.Gly856fs) rs1554138819
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001371623.1(TCOF1):c.1130C>T (p.Pro377Leu)
NM_001371623.1(TCOF1):c.3352C>T (p.Gln1118Ter) rs1581203344
NM_001371623.1(TCOF1):c.42C>G (p.Ile14Met) rs1581000221
NM_001371623.1(TCOF1):c.4372_4376del (p.Lys1458fs) rs587776582
NM_005633.4(SOS1):c.1655G>C rs397517154
NM_005633.4(SOS1):c.2158A>G (p.Thr720Ala)

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