ClinVar Miner

List of variants reported as pathogenic for Waardenburg syndrome type 2A

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_000248.3(MITF):c.328C>T (p.Arg110Ter) rs1553702006
NM_000248.3(MITF):c.33+1G>A rs1553701477
NM_000248.3(MITF):c.442-2A>C rs1553703612
NM_000248.3(MITF):c.618G>C (p.Lys206Asn) rs1057519325
NM_000248.3(MITF):c.635-1G>A rs1057519327
NM_000248.3(MITF):c.640C>T (p.Arg214Ter) rs104893746
NM_000248.3(MITF):c.649A>G (p.Arg217Gly) rs1057519326
NM_000248.3(MITF):c.676G>T (p.Glu226Ter)
NM_000248.3(MITF):c.710+1G>A rs1559749017
NM_000248.3(MITF):c.748T>C (p.Ser250Pro) rs104893744
NM_000248.3(MITF):c.824del (p.Glu275fs) rs1553705282
NM_000248.3(MITF):c.887del (p.Gly296fs) rs878853234
NM_000248.3(MITF):c.892T>C (p.Ser298Pro) rs104893747
NM_000248.3(MITF):c.952G>A (p.Glu318Lys) rs149617956

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