List of variants in gene combination LOC130004408, TCTN3 reported as likely pathogenic for bone development disease

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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: 5

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HGVS	dbSNP	gnomAD frequency
NM_015631.6(TCTN3):c.3G>A (p.Met1Ile)	rs745688122	0.00002
NM_015631.6(TCTN3):c.118del (p.Arg40fs)
NM_015631.6(TCTN3):c.182dup (p.Gly62fs)	rs763132585
NM_015631.6(TCTN3):c.1A>G (p.Met1Val)
NM_015631.6(TCTN3):c.256+2_256+7del	rs1224169161

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