ClinVar Miner

List of variants studied for canthal anomaly by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (57):
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Minimum conflict level:
ClinVar version:
Total variants: 83
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HGVS dbSNP
NM_000501.4(ELN):c.1675G>A (p.Val559Ile) rs560081099
NM_000501.4(ELN):c.1943G>A (p.Gly648Glu) rs140085632
NM_000501.4(ELN):c.647G>T (p.Gly216Val) rs145612009
NM_001354689.3(RAF1):c.1874C>T (p.Ser625Phe) rs730881004
NM_001354689.3(RAF1):c.601A>G (p.Ile201Val) rs757700986
NM_001354689.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_001354689.3(RAF1):c.781C>G (p.Pro261Ala) rs121434594
NM_001354689.3(RAF1):c.788T>A (p.Val263Asp) rs397516830
NM_001360.2(DHCR7):c.1054C>T (p.Arg352Trp) rs80338860
NM_001360.2(DHCR7):c.1055G>A (p.Arg352Gln) rs121909768
NM_001360.2(DHCR7):c.1091C>T (p.Thr364Met) rs567600444
NM_001360.2(DHCR7):c.1210C>T (p.Arg404Cys) rs61757582
NM_001360.2(DHCR7):c.1327C>T (p.Arg443Cys) rs535561852
NM_001360.2(DHCR7):c.1337G>A (p.Arg446Gln) rs751604696
NM_001360.2(DHCR7):c.1370G>A (p.Arg457Gln) rs886043122
NM_001360.2(DHCR7):c.1396G>A (p.Val466Met) rs760428437
NM_001360.2(DHCR7):c.1409T>A (p.Leu470Gln) rs1331331095
NM_001360.2(DHCR7):c.223A>T (p.Ile75Phe) rs370748173
NM_001360.2(DHCR7):c.292C>T (p.Gln98Ter) rs104886039
NM_001360.2(DHCR7):c.400G>T (p.Val134Leu) rs201466849
NM_001360.2(DHCR7):c.682C>T (p.Arg228Trp) rs775773057
NM_001360.2(DHCR7):c.719A>G (p.Asn240Ser) rs148609143
NM_001360.2(DHCR7):c.976G>T (p.Val326Leu) rs80338859
NM_001360.2(DHCR7):c.988G>A (p.Val330Met) rs139724817
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.1357G>A (p.Val453Met) rs377093637
NM_001374258.1(BRAF):c.1863T>A (p.Asn621Lys) rs397516895
NM_001374258.1(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_001374258.1(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_001374258.1(BRAF):c.735A>C (p.Leu245Phe) rs397507466
NM_002755.3(MAP2K1):c.323G>T (p.Arg108Leu) rs727504819
NM_002755.3(MAP2K1):c.961C>T (p.Pro321Ser) rs771613524
NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp) rs876657651
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002834.4(PTPN11):c.1048T>G (p.Ser350Ala) rs146571700
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797
NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu) rs141140214
NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys) rs397507506
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459
NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser) rs121918453
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.228G>T (p.Glu76Asp) rs397507514
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) rs397507531
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_004333.6(BRAF):c.1166G>A (p.Arg389His) rs577372072
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004333.6(BRAF):c.1940A>G (p.Tyr647Cys) rs1562939198
NM_004333.6(BRAF):c.437G>A (p.Arg146Gln) rs557241012
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_005633.3(SOS1):c.1098T>A (p.Asp366Glu) rs730881040
NM_005633.3(SOS1):c.1564A>C (p.Asn522His) rs761094509
NM_005633.3(SOS1):c.1642A>C (p.Ser548Arg) rs397517149
NM_005633.3(SOS1):c.1654A>G (p.Arg552Gly) rs137852814
NM_005633.3(SOS1):c.1656G>C (p.Arg552Ser) rs267607079
NM_005633.3(SOS1):c.1656G>T (p.Arg552Ser) rs267607079
NM_005633.3(SOS1):c.1720G>A (p.Val574Ile) rs727504641
NM_005633.3(SOS1):c.2536G>A (p.Glu846Lys) rs397517159
NM_005633.3(SOS1):c.3709C>G (p.Pro1237Ala) rs371408734
NM_005633.3(SOS1):c.487A>G (p.Lys163Glu) rs886042206
NM_005633.3(SOS1):c.797C>A (p.Thr266Lys) rs137852812
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) rs189150283
NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys) rs747430075
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys) rs797045165
NM_006912.6(RIT1):c.104G>C (p.Ser35Thr) rs869025189
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly) rs869025193
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.268A>G (p.Met90Val) rs1557960039
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_006939.4(SOS2):c.1861T>G (p.Phe621Val) rs1555370029
NM_006939.4(SOS2):c.2957G>A (p.Arg986Lys) rs772746106

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