ClinVar Miner

List of variants reported as pathogenic for canthal anomaly by Center for Human Genetics, Inc,Center for Human Genetics, Inc

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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NM_000381.4(MID1):c.1393G>C (p.Ala465Pro) rs1556004366
NM_000381.4(MID1):c.1483C>T (p.Arg495Ter) rs745554420
NM_000381.4(MID1):c.1608_1611dup (p.Ser538Ter) rs1556003095
NM_000381.4(MID1):c.1663A>G (p.Ile555Val) rs398123341
NM_000381.4(MID1):c.1798dup (p.His600fs) rs398123342
NM_000381.4(MID1):c.757-1G>C rs1555895725
NM_000381.4(MID1):c.829C>T (p.Arg277Ter) rs1555895704
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr) rs397507539
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.179G>C (p.Gly60Ala) rs397507509
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_005633.3(SOS1):c.1654A>G (p.Arg552Gly) rs137852814

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