ClinVar Miner

List of variants in gene MITF reported as likely pathogenic for Waardenburg syndrome type 2A

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000248.3(MITF):c.328C>T (p.Arg110Ter) rs1553702006
NM_000248.3(MITF):c.409_410delinsCC (p.Leu137Pro) rs1553702406
NM_000248.3(MITF):c.604G>A (p.Glu202Lys) rs1553704086
NM_000248.3(MITF):c.632T>C (p.Leu211Pro) rs1553704097
NM_000248.3(MITF):c.710+4A>C rs1553704850
NM_000248.3(MITF):c.718C>G (p.Arg240Gly) rs1559751245
NM_000248.3(MITF):c.763C>T (p.Arg255Ter) rs1057517966

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