List of variants in gene TMCO1 studied for Inborn genetic diseases

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_019026.6(TMCO1):c.52A>C (p.Thr18Pro)	rs757084156	0.00003
NM_019026.6(TMCO1):c.372C>A (p.Tyr124Ter)	rs1553249737	0.00001
NM_019026.6(TMCO1):c.458C>T (p.Ser153Leu)	rs1306085130	0.00001
NM_019026.6(TMCO1):c.139_140del (p.Gln46_Ser47insTer)	rs752176040
NM_019026.6(TMCO1):c.337G>C (p.Val113Leu)	rs2524786314
NM_019026.6(TMCO1):c.340G>T (p.Val114Leu)	rs1349622376
NM_019026.6(TMCO1):c.367T>C (p.Ser123Pro)	rs2524786144
NM_019026.6(TMCO1):c.391C>T (p.Arg131Ter)	rs1247427997
NM_019026.6(TMCO1):c.413C>T (p.Thr138Ile)
NM_019026.6(TMCO1):c.47T>A (p.Val16Glu)
NM_019026.6(TMCO1):c.533T>C (p.Leu178Pro)	rs2525193124

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