ClinVar Miner

List of variants reported as pathogenic for canthal anomaly by Illumina Clinical Services Laboratory,Illumina

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_001360.2(DHCR7):c.841G>A (p.Val281Met) rs398123607
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys) rs80338856
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr) rs397507539
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_005633.3(SOS1):c.1300G>A (p.Gly434Arg) rs397517148
NM_022464.5(SIL1):c.947dup (p.Arg317fs)

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