RS1057519326 MITF

Health Risk Chr 3:69956469
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What This Variant Does
"CLNSIG=5
Associated Conditions
Coloboma
osteopetrosis
microphthalmia
macrocephaly
albinism
and deafness
Waardenburg syndrome type 2A
Coloboma
osteopetrosis
microphthalmia
macrocephaly
albinism
and deafness
Waardenburg syndrome type 2A
Other Variants in MITF
rs1553701477 rs1553703612 rs1553704814 rs104893744 rs1553705282 rs104893745 rs104893746 rs149617956 rs869025259 rs373660547
Ask Dr. Hemsworth about this variant