ClinVar Miner

List of variants reported as likely benign for Macular corneal dystrophy

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_021615.5(CHST6):c.-78T>C rs114012239 0.01207
NM_021615.5(CHST6):c.*2955C>T rs76087215 0.01047
NM_021615.5(CHST6):c.*3883T>G rs138114811 0.00736
NM_021615.5(CHST6):c.*2426T>C rs142614349 0.00365
NM_021615.5(CHST6):c.*1914A>G rs143764747 0.00259
NM_021615.5(CHST6):c.*3917G>A rs180746384 0.00250
NM_021615.5(CHST6):c.237C>T (p.Thr79=) rs112148613 0.00247
NM_021615.5(CHST6):c.130C>T (p.Leu44=) rs140675009 0.00219
NM_021615.5(CHST6):c.*2947G>T rs112154704 0.00217
NM_021615.5(CHST6):c.*2210C>G rs111315694 0.00216
NM_021615.5(CHST6):c.*4880G>A rs76741848 0.00104
NM_021615.5(CHST6):c.*2417C>T rs188632926 0.00080
NM_021615.5(CHST6):c.*5197C>T rs554016597 0.00021
NM_021615.5(CHST6):c.656C>T (p.Ala219Val) rs201743866 0.00018
NM_021615.5(CHST6):c.301C>T (p.Leu101=) rs373160858 0.00016
NM_021615.5(CHST6):c.*1118A>G rs191429909 0.00014
NM_021615.5(CHST6):c.*435C>T rs375230497 0.00013
NM_021615.5(CHST6):c.585A>G (p.Leu195=) rs138994371 0.00010
NM_021615.5(CHST6):c.918C>T (p.Ile306=) rs576445739 0.00005
NM_021615.5(CHST6):c.789T>C (p.Phe263=) rs200988630 0.00003
NM_021615.5(CHST6):c.*1377G>A rs140231054 0.00002
NM_021615.5(CHST6):c.1167C>T (p.Thr389=) rs746231082 0.00002
NM_021615.5(CHST6):c.621G>A (p.Val207=) rs775009315 0.00002
NM_021615.5(CHST6):c.897C>G (p.Leu299=) rs749119225 0.00002
NM_021615.5(CHST6):c.*3364C>A rs189970730
NM_021615.5(CHST6):c.*4487C>T rs182168641
NM_021615.5(CHST6):c.1071C>A (p.Gly357=)
NM_021615.5(CHST6):c.132G>A (p.Leu44=)
NM_021615.5(CHST6):c.522G>A (p.Lys174=)
NM_021615.5(CHST6):c.573C>G (p.Pro191=) rs1044185449
NM_021615.5(CHST6):c.729C>T (p.Arg243=) rs916401556
NM_021615.5(CHST6):c.912T>C (p.His304=)

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