ClinVar Miner

List of variants reported as likely pathogenic for corneal dystrophy

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_000494.4(COL17A1):c.3908G>A (p.Arg1303Gln) rs121912771 0.00015
NM_001174089.2(SLC4A11):c.2192+1G>A rs759540763 0.00005
NM_000358.3(TGFBI):c.1406G>A (p.Arg469His) rs376761086 0.00002
NM_021615.5(CHST6):c.997T>C (p.Trp333Arg) rs758657734 0.00002
NM_001174089.2(SLC4A11):c.1201G>A (p.Gly401Arg) rs1233324021 0.00001
NM_001174089.2(SLC4A11):c.1201G>C (p.Gly401Arg) rs1233324021 0.00001
NM_001174089.2(SLC4A11):c.2557C>T (p.Arg853Cys) rs121909391 0.00001
NM_013319.3(UBIAD1):c.718G>A (p.Asp240Asn) rs371811409 0.00001
NM_021615.5(CHST6):c.172C>T (p.Gln58Ter) rs756036451 0.00001
NM_000223.4(KRT12):c.1181T>C (p.Leu394Pro)
NM_000358.3(TGFBI):c.1501C>A (p.Pro501Thr) rs121909212
NM_000358.3(TGFBI):c.1517_1518insCAAGGG (p.Met506delinsIleLysGly)
NM_000358.3(TGFBI):c.1612A>C (p.Thr538Pro) rs2126915354
NM_000358.3(TGFBI):c.1772C>A (p.Ser591Tyr) rs1751703312
NM_000358.3(TGFBI):c.1855A>G (p.Met619Val) rs2126917684
NM_000358.3(TGFBI):c.1864A>C (p.Asn622His) rs2126917690
NM_000494.4(COL17A1):c.2897-2A>C
NM_001083962.2(TCF4):c.1118dup (p.Pro373_Asn374insTer) rs1600404795
NM_001083962.2(TCF4):c.775_776dup (p.Glu261fs)
NM_001174089.2(SLC4A11):c.2018+1G>A rs2067654837
NM_001174089.2(SLC4A11):c.2450C>T (p.Thr817Met)
NM_001174096.2(ZEB1):c.1093dup (p.Ile365fs)
NM_001174096.2(ZEB1):c.504del (p.Gln169fs) rs2069829602
NM_001174096.2(ZEB1):c.623dup (p.Tyr208Ter) rs2139506946
NM_001174096.2(ZEB1):c.688-1G>A rs2139622959
NM_001174096.2(ZEB1):c.692_693del (p.His231fs)
NM_001174096.2(ZEB1):c.831del (p.Ser279fs)
NM_015040.4(PIKFYVE):c.3500C>G (p.Ser1167Ter) rs780579562
NM_015040.4(PIKFYVE):c.904C>T (p.Arg302Ter) rs1195336213
NM_015040.4(PIKFYVE):c.935C>G (p.Ser312Ter) rs2125298689
NM_021615.5(CHST6):c.211G>C (p.Glu71Gln) rs999246452
NM_021615.5(CHST6):c.481G>C (p.Ala161Pro)
NM_021615.5(CHST6):c.847_848delinsTG (p.Glu283Ter) rs2151665554
NM_024915.4(GRHL2):c.20+133del rs1554579819
NM_024915.4(GRHL2):c.20+257del rs1554579832
NM_024915.4(GRHL2):c.20+544G>T rs1554579878
NM_057088.3(KRT3):c.1492G>A (p.Glu498Lys) rs2121217835
NM_057088.3(KRT3):c.1527G>T (p.Glu509Asp)
NM_198252.3(GSN):c.-9-1987dup
NM_198252.3(GSN):c.487G>T (p.Asp163Tyr) rs121909715

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