List of variants in gene ESRP1 studied for autosomal recessive disease

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_017697.4(ESRP1):c.756-23T>C	rs1426171	0.69081
NM_017697.4(ESRP1):c.490+16T>C	rs60139063	0.57366
NM_017697.4(ESRP1):c.1800T>C (p.Asn600=)	rs12677519	0.48717
NM_017697.4(ESRP1):c.984C>T (p.Val328=)	rs1549466	0.29789
NM_017697.4(ESRP1):c.665_683del (p.Asp222fs)	rs1554577339
NM_017697.4(ESRP1):c.775C>G (p.Leu259Val)	rs1554577402

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