List of variants in gene BLTP1 reported as likely pathogenic for arthrogryposis multiplex congenita

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001384125.1(BLTP1):c.12154T>C (p.Tyr4052His)	rs777407076	0.00001
NM_001384125.1(BLTP1):c.3323+1G>A	rs775292946	0.00001
NM_001384125.1(BLTP1):c.3926G>A (p.Arg1309Gln)	rs1460624416
NM_001384125.1(BLTP1):c.692del (p.Phe231fs)	rs1741122462

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