List of variants in gene SPECC1L, SPECC1L-ADORA2A studied for eyelid disorder

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_015330.6(SPECC1L):c.2851G>A (p.Val951Met)	rs204718	0.99996
NM_015330.6(SPECC1L):c.2560+46C>T	rs5760351	0.55421
NM_015330.6(SPECC1L):c.570G>A (p.Thr190=)	rs3747113	0.22461
NM_015330.6(SPECC1L):c.2486G>A (p.Arg829Lys)	rs2041009697	0.00001
NM_015330.6(SPECC1L):c.1292T>C (p.Leu431Pro)	rs1556226291
NM_015330.6(SPECC1L):c.1967A>C (p.Glu656Ala)	rs139099983
NM_015330.6(SPECC1L):c.2067_2071delinsTTGAAC (p.Ile690_Phe691delinsTer)	rs2040777042
NM_015330.6(SPECC1L):c.2473del (p.Met825fs)	rs2146521275
NM_015330.6(SPECC1L):c.2999A>T (p.Asp1000Val)	rs1601294872

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