List of variants in gene C1QTNF5, MFRP studied for Retinal dystrophy

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_031433.4(MFRP):c.1124+1G>T	rs145719998	0.00011
NM_001278431.2(C1QTNF5):c.586A>G (p.Met196Val)	rs1950473419	0.00001
NC_000011.10:g.119346419_119352600del
NM_001278431.2(C1QTNF5):c.489C>A (p.Ser163Arg)	rs111033578
NM_001278431.2(C1QTNF5):c.489C>G (p.Ser163Arg)	rs111033578
NM_001278431.2(C1QTNF5):c.545T>C (p.Phe182Ser)	rs1950474566
NM_001278431.2(C1QTNF5):c.556C>T (p.Pro186Ser)	rs1555036138
NM_001278431.2(C1QTNF5):c.563C>T (p.Pro188Leu)	rs1950474024
NM_001278431.2(C1QTNF5):c.569C>G (p.Ser190Trp)	rs906525288
NM_001278431.2(C1QTNF5):c.628G>C (p.Gly210Arg)	rs1379281803
NM_001278431.2(C1QTNF5):c.96C>G (p.Pro32=)	rs760578346
NM_031433.4(MFRP):c.1235T>C (p.Leu412Pro)	rs1950517488
NM_031433.4(MFRP):c.1516-5C>A	rs968607580
NM_031433.4(MFRP):c.855T>A (p.Cys285Ter)	rs1243587288
NM_031433.4(MFRP):c.955C>T (p.Gln319Ter)	rs1555037395

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