ClinVar Miner

List of variants reported as pathogenic for canthal anomaly by Baylor Genetics

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 65
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HGVS dbSNP
GRCh37/hg19 5p15.33-14.1(chr5:140474-26906925)
GRCh37/hg19 5p15.33-15.31(chr5:140474-9792158)
GRCh37/hg19 7q11.23(chr7:72700996-74142190)
GRCh37/hg19 7q11.23(chr7:72721449-73959106)
GRCh37/hg19 7q11.23(chr7:72744494-74339044)
GRCh37/hg19 7q11.23(chr7:72744494-76038818)
GRCh37/hg19 7q11.23(chr7:72772522-74133319)
NM_001085049.3(MRAS):c.68G>T (p.Gly23Val) rs1576359216
NM_001163817.2(DHCR7):c.1A>G (p.Met1Val) rs104886033
NM_001163817.2(DHCR7):c.964-1G>T rs138659167
NM_001354689.3(RAF1):c.779C>A (p.Thr260Lys) rs869025501
NM_001354689.3(RAF1):c.782C>G (p.Pro261Arg) rs397516828
NM_001360.2(DHCR7):c.1054C>T (p.Arg352Trp) rs80338860
NM_001360.2(DHCR7):c.1066del (p.His356fs) rs774291653
NM_001360.2(DHCR7):c.1139G>A (p.Cys380Tyr) rs779709646
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.1337G>A (p.Arg446Gln) rs751604696
NM_001360.2(DHCR7):c.1342G>A (p.Glu448Lys) rs80338864
NM_001360.2(DHCR7):c.1396G>A (p.Val466Met) rs760428437
NM_001360.2(DHCR7):c.292C>T (p.Gln98Ter) rs104886039
NM_001360.2(DHCR7):c.440G>A (p.Gly147Asp) rs777425801
NM_001360.2(DHCR7):c.461C>G (p.Thr154Arg) rs143312232
NM_001360.2(DHCR7):c.461C>T (p.Thr154Met) rs143312232
NM_001360.2(DHCR7):c.470T>C (p.Leu157Pro) rs753960624
NM_001360.2(DHCR7):c.506C>T (p.Ser169Leu) rs80338855
NM_001360.2(DHCR7):c.730G>A (p.Gly244Arg) rs121909764
NM_001360.2(DHCR7):c.740C>T (p.Ala247Val) rs886041354
NM_001360.2(DHCR7):c.841G>A (p.Val281Met) rs398123607
NM_001360.2(DHCR7):c.866C>T (p.Thr289Ile) rs121909765
NM_001360.2(DHCR7):c.906C>G (p.Phe302Leu) rs80338858
NM_001360.2(DHCR7):c.907G>A (p.Gly303Arg) rs142808899
NM_001360.2(DHCR7):c.963+1G>T rs1057516973
NM_001360.2(DHCR7):c.976G>T (p.Val326Leu) rs80338859
NM_001360.3(DHCR7):c.1076_1077dup (p.Leu360fs) rs1318653026
NM_001360.3(DHCR7):c.355del (p.His119fs) rs747827699
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217
NM_001360.3(DHCR7):c.626+2dup rs1591111319
NM_001360.3(DHCR7):c.696G>A (p.Trp232Ter) rs1591109892
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys) rs80338856
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_002834.4(PTPN11):c.1520C>A (p.Thr507Lys) rs886039463
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala) rs397507501
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541
NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr) rs121918458
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1508G>A (p.Gly503Glu) rs397507546
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) rs397507549
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) rs121918462
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) rs104894366
NM_004985.5(KRAS):c.40G>A (p.Val14Ile) rs104894365
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter) rs149850248
NM_006767.4(LZTR1):c.628C>T (p.Arg210Ter) rs150419186
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006912.6(RIT1):c.270G>T (p.Met90Ile) rs483352822
NM_012250.6(RRAS2):c.215A>T (p.Gln72Leu) rs113954997
NM_022464.5(SIL1):c.1321G>T (p.Glu441Ter)
NM_022464.5(SIL1):c.947dup (p.Arg317fs)
NM_203290.4(POLR1C):c.616del (p.Gln206fs) rs1156407486

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