List of variants in gene ERBB3 studied for lethal congenital contracture syndrome

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_001982.4(ERBB3):c.234+8A>T	rs2271194	0.52361
NM_001982.4(ERBB3):c.3129+9A>C	rs2292238	0.33347
NM_001982.4(ERBB3):c.3348G>A (p.Arg1116=)	rs2271189	0.30797
NM_001982.4(ERBB3):c.2241G>C (p.Lys747Asn)	rs760414488	0.00004
NM_001982.4(ERBB3):c.1253T>C (p.Ile418Thr)	rs141230043	0.00003
NM_001982.4(ERBB3):c.1184-9A>G	rs1565859132
NM_001982.4(ERBB3):c.237G>A (p.Trp79Ter)
NM_001982.4(ERBB3):c.2615A>T (p.Lys872Met)
NM_001982.4(ERBB3):c.2616+16G>C	rs76079275
NM_001982.4(ERBB3):c.3202-2A>G
NM_001982.4(ERBB3):c.3223del (p.Ser1075fs)
NM_001982.4(ERBB3):c.3425C>T (p.Pro1142Leu)	rs1592232580
NM_001982.4(ERBB3):c.3567AGA[2] (p.Glu1191del)	rs780883720
NM_001982.4(ERBB3):c.650A>C (p.His217Pro)
NM_001982.4(ERBB3):c.83-2A>G

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