List of variants in gene IMPG2 studied for Vitelliform macular dystrophy 5

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_016247.4(IMPG2):c.3381C>T (p.Leu1127=)	rs348867	0.80304
NM_016247.4(IMPG2):c.85+25T>G	rs573908	0.71056
NM_016247.4(IMPG2):c.2021C>T (p.Thr674Ile)	rs571391	0.64801
NM_016247.4(IMPG2):c.370T>C (p.Phe124Leu)	rs201893545	0.00004
NM_016247.4(IMPG2):c.2636G>C (p.Ser879Thr)	rs774965996	0.00001
NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter)	rs199867882	0.00001
NM_016247.4(IMPG2):c.513T>G (p.Tyr171Ter)	rs763295314	0.00001
NM_016247.4(IMPG2):c.101C>G (p.Ser34Cys)	rs786205565
NM_016247.4(IMPG2):c.1658del (p.Val553fs)	rs1706456124
NM_016247.4(IMPG2):c.2274G>A (p.Trp758Ter)	rs786205564
NM_016247.4(IMPG2):c.2816T>A (p.Leu939His)	rs1559642470
NM_016247.4(IMPG2):c.3047T>C (p.Phe1016Ser)
NM_016247.4(IMPG2):c.3230G>T (p.Cys1077Phe)	rs713993049
NM_016247.4(IMPG2):c.380G>C (p.Arg127Pro)	rs766305807
NM_016247.4(IMPG2):c.727G>C (p.Ala243Pro)	rs1706811719
NM_016247.4(IMPG2):c.86-8C>G

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