List of variants in gene combination C1QTNF5, MFRP studied for Nanophthalmos 2

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_031433.4(MFRP):c.1180G>A (p.Val394Met)	rs769294778	0.00001
NM_031433.4(MFRP):c.523C>T (p.Gln175Ter)	rs121908189	0.00001
NM_031433.4(MFRP):c.1150dup (p.His384fs)	rs587776595
NM_031433.4(MFRP):c.497C>T (p.Pro166Leu)	rs200251814
NM_031433.4(MFRP):c.498del (p.Asn167fs)	rs587776596
NM_031433.4(MFRP):c.545T>C (p.Ile182Thr)	rs121908190
NM_031433.4(MFRP):c.666del (p.Thr223fs)	rs1435204327
NM_031433.4(MFRP):c.899-3C>A	rs1950537117

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