ClinVar Miner

List of variants studied for canthal anomaly by GeneReviews

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP
NM_001163817.2(DHCR7):c.278C>T (p.Thr93Met) rs80338853
NM_001163817.2(DHCR7):c.725G>A (p.Arg242His) rs80338857
NM_001360.2(DHCR7):c.1054C>T (p.Arg352Trp) rs80338860
NM_001360.2(DHCR7):c.1210C>T (p.Arg404Cys) rs61757582
NM_001360.2(DHCR7):c.1228G>A (p.Gly410Ser) rs80338862
NM_001360.2(DHCR7):c.1342G>A (p.Glu448Lys) rs80338864
NM_001360.2(DHCR7):c.506C>T (p.Ser169Leu) rs80338855
NM_001360.2(DHCR7):c.832-1G>C rs80338863
NM_001360.2(DHCR7):c.906C>G (p.Phe302Leu) rs80338858
NM_001360.2(DHCR7):c.976G>T (p.Val326Leu) rs80338859
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_001374258.1(BRAF):c.1909C>G (p.Leu637Val) rs121913369
NM_001374258.1(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_002524.5(NRAS):c.101C>T (p.Pro34Leu) rs397514553
NM_002524.5(NRAS):c.149C>T (p.Thr50Ile) rs267606921
NM_002524.5(NRAS):c.179G>A (p.Gly60Glu) rs267606920
NM_002524.5(NRAS):c.71T>A (p.Ile24Asn) rs869025573
NM_002834.3(PTPN11):c.179_181delGTG (p.Gly60del) rs80338836
NM_002834.4(PTPN11):c.181_183del (p.Asp61del) rs869025574
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_004333.6(BRAF):c.1593G>C (p.Trp531Cys) rs606231228
NM_004333.6(BRAF):c.722C>G (p.Thr241Arg) rs387906660
NM_004715.4(CTDP1):c.863+389C>T rs113994102
NM_023067.3(FOXL2):c.661GCN[15_24] (p.Ala221[(15_24)])
NM_023067.4(FOXL2):c.560G>A (p.Gly187Asp) rs121908359
NM_023067.4(FOXL2):c.650C>T (p.Ser217Phe) rs797044527
NM_023067.4(FOXL2):c.655C>T (p.Gln219Ter) rs104893741
NM_023067.4(FOXL2):c.661_702= (p.Ala221_Ala234=)
NM_023067.4(FOXL2):c.804dup (p.Gly269fs) rs797044528
NM_023067.4(FOXL2):c.841_857dup (p.Pro287fs) rs797044529
NM_023067.4(FOXL2):c.843_859dup (p.Pro287fs) rs672601359
NM_023067.4(FOXL2):c.843_865dup (p.His289fs) rs797044530
NM_023067.4(FOXL2):c.854del (p.Pro285fs) rs797044531
NM_023067.4(FOXL2):c.855_871del (p.Pro287fs) rs797044532
NM_023067.4(FOXL2):c.855_871dup (p.His291fs) rs797044532

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