ClinVar Miner

List of variants reported as benign 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: 53
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HGVS dbSNP
NM_001354689.3(RAF1):c.*266C>T rs1051208
NM_001354689.3(RAF1):c.*348T>C rs5746247
NM_001354689.3(RAF1):c.*83C>T rs2229757
NM_001354689.3(RAF1):c.-281C>G rs61761285
NM_001354689.3(RAF1):c.1729-13T>C rs147475396
NM_001360.2(DHCR7):c.*480C>T rs1790345
NM_001360.2(DHCR7):c.*643C>T rs1044535
NM_001360.2(DHCR7):c.*734A>G rs7690
NM_001360.2(DHCR7):c.-225C>G rs4944946
NM_001360.2(DHCR7):c.-225C>T rs4944946
NM_001360.2(DHCR7):c.1158T>C (p.Asp386=) rs760241
NM_001360.2(DHCR7):c.1272C>T (p.Gly424=) rs909217
NM_001360.2(DHCR7):c.189G>A (p.Gln63=) rs1044482
NM_001360.2(DHCR7):c.207T>C (p.Thr69=) rs1790334
NM_001360.2(DHCR7):c.231C>T (p.Thr77=) rs4316537
NM_001360.2(DHCR7):c.438T>C (p.Asn146=) rs949177
NM_001360.2(DHCR7):c.626+15G>A rs736894
NM_001374258.1(BRAF):c.2049A>G (p.Gly683=) rs9648696
NM_002524.5(NRAS):c.*2662G>A rs148827219
NM_002524.5(NRAS):c.*2667T>C rs145382662
NM_002524.5(NRAS):c.*3384C>T rs140049110
NM_002524.5(NRAS):c.*346G>A rs9724642
NM_002524.5(NRAS):c.*687A>G
NM_002524.5(NRAS):c.*740G>A rs372008962
NM_002524.5(NRAS):c.*872C>T rs14804
NM_002834.4(PTPN11):c.*1374G>C rs139266170
NM_002834.4(PTPN11):c.*2927T>A rs190612693
NM_002834.4(PTPN11):c.*670G>A rs112287134
NM_002834.4(PTPN11):c.-273G>A rs58805176
NM_002834.5(PTPN11):c.1093-9C>A rs12301915
NM_002834.5(PTPN11):c.255C>T (p.His85=) rs61736914
NM_004333.6(BRAF):c.*387G>A rs114105685
NM_004985.5(KRAS):c.451-9G>A rs12313763
NM_005633.3(SOS1):c.*1844A>G rs10166395
NM_005633.3(SOS1):c.*2567T>A rs6704656
NM_005633.3(SOS1):c.*328A>G rs1059310
NM_005633.3(SOS1):c.*3539T>C rs1037495
NM_005633.3(SOS1):c.*3724T>C rs11124658
NM_005633.3(SOS1):c.*3918T>C rs1043793
NM_005633.3(SOS1):c.*805C>A rs1059313
NM_005633.3(SOS1):c.1230G>A (p.Gln410=) rs141390073
NM_005633.3(SOS1):c.195A>C (p.Arg65=) rs7609455
NM_022464.5(SIL1):c.-6C>G rs11555154
NM_022464.5(SIL1):c.1029+6T>C rs57028146
NM_022464.5(SIL1):c.153A>G (p.Thr51=) rs3088052
NM_022464.5(SIL1):c.239A>G (p.Gln80Arg) rs35581768
NM_022464.5(SIL1):c.394A>C (p.Lys132Gln) rs61745568
NM_022464.5(SIL1):c.454-6C>T rs58624842
NM_022464.5(SIL1):c.573G>A (p.Lys191=) rs148927511
NM_022464.5(SIL1):c.900C>T (p.Phe300=) rs35080367
NM_203290.4(POLR1C):c.-15G>A
NM_203290.4(POLR1C):c.634A>G (p.Met212Val) rs79222964
NM_203290.4(POLR1C):c.656-9C>T rs113383614

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