ClinVar Miner

List of variants studied for Waardenburg syndrome type 2 by OMIM

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NG_012130.1:g.(?_5165)_(7623_?)del
NM_001354604.2(MITF):c.1069T>C (p.Ser357Pro) rs104893744
NM_001354604.2(MITF):c.1145del (p.Glu382fs) rs1553705282
NM_001354604.2(MITF):c.1213T>C (p.Ser405Pro) rs104893747
NM_001354604.2(MITF):c.355-1066G>A rs1553701477
NM_001354604.2(MITF):c.763-2A>C rs1553703612
NM_001354604.2(MITF):c.939G>C (p.Lys313Asn) rs1057519325
NM_001354604.2(MITF):c.956-1G>A rs1057519327
NM_001354604.2(MITF):c.961C>T (p.Arg321Ter) rs104893746
NM_001354604.2(MITF):c.970A>G (p.Arg324Gly) rs1057519326

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