ClinVar Miner

List of variants studied for corneal disorder by Genetics and Molecular Pathology, SA Pathology

Included ClinVar conditions (75):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_021615.5(CHST6):c.599T>G (p.Leu200Arg) rs28937879 0.00022
NM_000358.3(TGFBI):c.371G>A (p.Arg124His) rs121909211 0.00003
NM_021615.5(CHST6):c.304T>G (p.Cys102Gly) rs121917822 0.00003
NM_021615.5(CHST6):c.997T>C (p.Trp333Arg) rs758657734 0.00002
NM_000358.3(TGFBI):c.370C>T (p.Arg124Cys) rs121909210 0.00001
NM_000494.4(COL17A1):c.3156C>T (p.Gly1052=) rs760714959 0.00001
NM_013319.3(UBIAD1):c.718G>A (p.Asp240Asn) rs371811409 0.00001
NM_015040.4(PIKFYVE):c.2344C>T (p.Arg782Ter) rs992128517 0.00001
NM_198252.3(GSN):c.487G>A (p.Asp163Asn) rs121909715 0.00001
NM_000223.4(KRT12):c.1148_1159del (p.Gln383_Val387delinsLeu) rs2143257204
NM_000223.4(KRT12):c.1151T>C (p.Leu384Pro) rs2143257255
NM_000358.3(TGFBI):c.1612A>C (p.Thr538Pro) rs2126915354
NM_000358.3(TGFBI):c.1663C>T (p.Arg555Trp) rs121909208
NM_000358.3(TGFBI):c.1664G>A (p.Arg555Gln) rs121909209
NM_000358.3(TGFBI):c.1864A>C (p.Asn622His) rs2126917690
NM_000358.3(TGFBI):c.370C>A (p.Arg124Ser) rs121909210
NM_001174089.2(SLC4A11):c.379G>A (p.Glu127Lys) rs1482631297
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_015040.4(PIKFYVE):c.4511G>A (p.Trp1504Ter) rs2125682979
NM_021615.5(CHST6):c.847_848delinsTG (p.Glu283Ter) rs2151665554
NM_198252.3(GSN):c.1324T>C (p.Trp442Arg) rs2062427908

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