ClinVar Miner

List of variants reported as benign for corneal dystrophy by Invitae

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_021615.5(CHST6):c.258A>C (p.Ala86=) rs61740901 0.01353
NM_021615.5(CHST6):c.120C>T (p.Arg40=) rs61740904 0.01016
NM_021615.5(CHST6):c.768C>T (p.Ala256=) rs146465655 0.00857
NM_021615.5(CHST6):c.465G>A (p.Arg155=) rs141905571 0.00619
NM_021615.5(CHST6):c.294C>G (p.Ser98=) rs118144424 0.00618
NM_021615.5(CHST6):c.129G>A (p.Val43=) rs112939575 0.00366
NM_021615.5(CHST6):c.666C>T (p.Asn222=) rs148529501 0.00284
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.993G>T (p.Gln331His) rs140699573 0.00101
NM_021615.5(CHST6):c.828G>A (p.Leu276=) rs140327212 0.00085
NM_021615.5(CHST6):c.1006G>A (p.Ala336Thr) rs79173362 0.00051
NM_021615.5(CHST6):c.15C>T (p.Arg5=) rs762744897 0.00009
NM_021615.5(CHST6):c.484C>G (p.Arg162Gly) rs117435647

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