ClinVar Miner

List of variants studied for melanoma, cutaneous malignant, susceptibility to, 8 by KCCC/NGS Laboratory, Kuwait Cancer Control Center

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001354604.2(MITF):c.330G>A (p.Thr110=) rs9849776 0.01713
NM_001354604.2(MITF):c.355-1135G>A rs77588960 0.01433
NM_001354604.2(MITF):c.1566G>A (p.Thr522=) rs36118030 0.00991
NM_001354604.2(MITF):c.880+9C>G rs181810413 0.00203
NM_001354604.2(MITF):c.366C>T (p.His122=) rs140663277 0.00201
NM_001354604.2(MITF):c.623A>G (p.Glu208Gly) rs200108255 0.00006
NM_001354604.2(MITF):c.1569G>A (p.Glu523=) rs200830148 0.00003

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