ClinVar Miner

List of variants reported as benign for canthal anomaly by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
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HGVS dbSNP
NM_000381.4(MID1):c.2000C>T (p.Pro667Leu) rs147106995
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.25A>T (p.Ile9Phe) rs115595829
NM_001360.2(DHCR7):c.321+10C>T rs377108406
NM_001360.2(DHCR7):c.321+34C>A rs76865413
NM_001360.2(DHCR7):c.438T>C (p.Asn146=) rs949177
NM_001360.2(DHCR7):c.570C>T (p.Ala190=) rs74909468
NM_001360.2(DHCR7):c.626+15G>A rs736894
NM_001360.2(DHCR7):c.627-29T>G rs74742701
NM_001360.2(DHCR7):c.99-4G>A rs140748737
NM_002834.3:c.1-140delG
NM_002834.4(PTPN11):c.137+35G>A rs727505387
NM_002834.4(PTPN11):c.14+25G>C rs7972574
NM_002834.4(PTPN11):c.14+54C>A rs7973432
NM_002834.4(PTPN11):c.15-38C>T rs727505378
NM_002834.4(PTPN11):c.1599+26G>A rs727505390
NM_002834.4(PTPN11):c.1599+33A>G rs727505380
NM_002834.4(PTPN11):c.1600-95C>T rs3741983
NM_002834.4(PTPN11):c.757-69T>C rs150087259
NM_002834.4(PTPN11):c.854-21C>T rs41279090
NM_002834.4(PTPN11):c.854-30T>C rs144391508
NM_002834.5(PTPN11):c.525+12G>C rs41304351
NM_002834.5(PTPN11):c.854-32A>C rs187389813
NM_005633.3(SOS1):c.1074+5G>C rs145155424
NM_005633.3(SOS1):c.1203-20T>C rs112906251
NM_005633.3(SOS1):c.1230G>A (p.Gln410=) rs141390073
NM_005633.3(SOS1):c.195A>C (p.Arg65=) rs7609455
NM_005633.3(SOS1):c.2791+53C>T rs7577088
NM_005633.3(SOS1):c.2964+32T>G rs727505384
NM_005633.3(SOS1):c.3081+26G>A rs186106971
NM_005633.3(SOS1):c.3081+32A>G rs6723430
NM_005633.3(SOS1):c.3347-20T>G rs727505382
NM_005633.3(SOS1):c.720+25C>G rs997344
NM_005633.3:c.213+15C>G
NM_006939.4(SOS2):c.1448G>A (p.Ser483Asn) rs17122201
NM_006939.4(SOS2):c.2057+19_2057+20del rs111970905
NM_006939.4(SOS2):c.3075+7C>T rs144391749
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) rs72681869
NM_006939.4(SOS2):c.591A>G (p.Leu197=) rs113460230
NM_006939.4(SOS2):c.622G>A (p.Ala208Thr) rs61755579

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