List of variants in gene SPEN reported as pathogenic for Radio-Tartaglia syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 20

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HGVS	dbSNP	gnomAD frequency
NM_015001.3(SPEN):c.10026+1G>T
NM_015001.3(SPEN):c.2104C>T (p.Arg702Ter)	rs2071187754
NM_015001.3(SPEN):c.3682_3686del (p.Lys1228fs)
NM_015001.3(SPEN):c.4345G>T (p.Glu1449Ter)	rs2148739431
NM_015001.3(SPEN):c.4828C>T (p.Gln1610Ter)
NM_015001.3(SPEN):c.4943_4944insTA (p.Glu1648fs)
NM_015001.3(SPEN):c.5806C>T (p.Arg1936Ter)	rs2071226510
NM_015001.3(SPEN):c.6058C>T (p.Gln2020Ter)	rs752207572
NM_015001.3(SPEN):c.6087_6088del (p.Glu2029fs)	rs2148740878
NM_015001.3(SPEN):c.6164del (p.Pro2055fs)
NM_015001.3(SPEN):c.6223_6227del (p.Ser2075fs)	rs2148741007
NM_015001.3(SPEN):c.6925dup (p.Ser2309fs)
NM_015001.3(SPEN):c.6974_6975del (p.Leu2325fs)	rs2071239657
NM_015001.3(SPEN):c.7115_7116del (p.Gly2372fs)
NM_015001.3(SPEN):c.7144C>T (p.Gln2382Ter)	rs2148741741
NM_015001.3(SPEN):c.7338_7339dup (p.Arg2447fs)	rs2148741888
NM_015001.3(SPEN):c.7464dup (p.Ile2489fs)
NM_015001.3(SPEN):c.9008C>A (p.Ser3003Ter)
NM_015001.3(SPEN):c.9031C>T (p.Arg3011Ter)
NM_015001.3(SPEN):c.922C>T (p.Arg308Ter)

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