List of variants in gene TBCD reported as pathogenic by OMIM

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_005993.5(TBCD):c.1130G>A (p.Arg377Gln)	rs764085684	0.00006
NM_005993.5(TBCD):c.3365C>T (p.Pro1122Leu)	rs755177846	0.00005
NM_005993.5(TBCD):c.2314C>T (p.Arg772Cys)	rs181969865	0.00001
NM_005993.5(TBCD):c.2761G>A (p.Ala921Thr)	rs886041085	0.00001
NM_005993.5(TBCD):c.686T>G (p.Leu229Arg)	rs778417127	0.00001
NM_005993.5(TBCD):c.1160T>G (p.Met387Arg)	rs886041086
NM_005993.5(TBCD):c.1564-12C>G	rs886041084
NM_005993.5(TBCD):c.1876G>A (p.Ala626Thr)	rs749225304
NM_005993.5(TBCD):c.2280C>A (p.Tyr760Ter)	rs754750539
NM_005993.5(TBCD):c.2810C>G (p.Pro937Arg)	rs886041087

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