ClinVar Miner

List of variants studied for coloboma of iris

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter) rs765468645 0.00002
NM_001368894.2(PAX6):c.142-3T>C
NM_001372066.1(TFAP2A):c.1043_1044del (p.Lys348fs) rs1554110735
NM_017780.4(CHD7):c.6045_6046del (p.Phe2015fs)
NM_020719.3(PRR12):c.1918G>T (p.Glu640Ter) rs1555740650
NM_020719.3(PRR12):c.4502_4505del (p.Leu1501fs) rs1555741826
NM_020719.3(PRR12):c.903_909dup (p.Pro304fs) rs1555740394
NM_153704.6(TMEM67):c.2418_2423dup (p.805_806MN[3]) rs1554558365

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