List of variants in gene UPF3B reported by CeGaT Center for Human Genetics Tuebingen

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: 18

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HGVS	dbSNP	gnomAD frequency
NM_080632.3(UPF3B):c.1302+8T>C	rs776786838	0.00009
NM_080632.3(UPF3B):c.277A>G (p.Met93Val)	rs770557726	0.00004
NM_080632.3(UPF3B):c.758T>C (p.Ile253Thr)	rs754982440	0.00003
NM_080632.3(UPF3B):c.1035T>C (p.Tyr345=)	rs756540483	0.00001
NC_000023.11:g.119815258C>T
NC_000023.11:g.119815271G>C
NC_000023.11:g.119831544C>A
NM_080632.3(UPF3B):c.1030G>A (p.Asp344Asn)	rs1603370101
NM_080632.3(UPF3B):c.1044G>A (p.Arg348=)
NM_080632.3(UPF3B):c.1149_1150del (p.Lys384fs)	rs2056117839
NM_080632.3(UPF3B):c.1263_1265del (p.Lys422del)
NM_080632.3(UPF3B):c.1275G>C (p.Val425=)	rs1342234576
NM_080632.3(UPF3B):c.1289G>A (p.Arg430Gln)
NM_080632.3(UPF3B):c.1380G>C (p.Lys460Asn)
NM_080632.3(UPF3B):c.26C>G (p.Pro9Arg)	rs760862595
NM_080632.3(UPF3B):c.2_3insA (p.Met1fs)	rs1569464167
NM_080632.3(UPF3B):c.674_677del (p.Arg225fs)	rs794727881
NM_080632.3(UPF3B):c.9A>C (p.Glu3Asp)

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