List of variants in gene TRIM37 reported as pathogenic for autosomal recessive disease

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_015294.6(TRIM37):c.493-2A>G	rs186251998	0.00070
NM_015294.6(TRIM37):c.1411C>T (p.Arg471Ter)	rs386834001	0.00001
NM_015294.6(TRIM37):c.181C>T (p.Arg61Ter)	rs373520509	0.00001
NM_015294.6(TRIM37):c.860G>A (p.Ser287Asn)	rs386834008	0.00001
GRCh37/hg19 17q22(chr17:57119174-57128690)
NM_015294.6(TRIM37):c.1346dup (p.Ser450fs)	rs386834000
NM_015294.6(TRIM37):c.137_138del (p.Glu46fs)
NM_015294.6(TRIM37):c.1894_1895del (p.Glu632fs)	rs386834002
NM_015294.6(TRIM37):c.1949-12A>G	rs1409660715
NM_015294.6(TRIM37):c.1999C>T (p.Arg667Ter)
NM_015294.6(TRIM37):c.2056C>T (p.Arg686Ter)	rs386834003
NM_015294.6(TRIM37):c.2212del (p.Glu738fs)	rs386833416
NM_015294.6(TRIM37):c.2377_2378del (p.Leu793fs)
NM_015294.6(TRIM37):c.2437_2438insAT (p.Leu813fs)
NM_015294.6(TRIM37):c.326G>C (p.Cys109Ser)	rs121908391
NM_015294.6(TRIM37):c.370-1G>A
NM_015294.6(TRIM37):c.447del (p.Lys149fs)	rs1197523487
NM_015294.6(TRIM37):c.745C>T (p.Gln249Ter)	rs386834005
NM_015294.6(TRIM37):c.810-1G>A	rs386834006
NM_015294.6(TRIM37):c.838_842del (p.Thr280fs)	rs386834007

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