ClinVar Miner

List of variants studied for Waardenburg syndrome type 2A by OMIM

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
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.649A>G (p.Arg217Gly) rs1057519326
NM_000248.3(MITF):c.824delA (p.Glu275Glyfs) rs1553705282
NM_198159.2(MITF):c.1051T>C (p.Ser351Pro) rs104893744
NM_198159.2(MITF):c.1195T>C (p.Ser399Pro) rs104893747
NM_198159.2(MITF):c.943C>T (p.Arg315Ter) rs104893746

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