List of variants in gene SLC10A1 studied for inborn disorder of bile acid synthesis

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_003049.4(SLC10A1):c.800C>T (p.Ser267Phe)	rs2296651	0.00251
NM_003049.4(SLC10A1):c.263T>C (p.Ile88Thr)	rs148467625	0.00074
NM_003049.4(SLC10A1):c.122C>T (p.Ser41Leu)	rs111885789	0.00027
NM_003049.4(SLC10A1):c.755G>A (p.Arg252His)	rs147226818	0.00020
NM_003049.4(SLC10A1):c.559G>C (p.Val187Leu)	rs199771927	0.00003
NM_003049.4(SLC10A1):c.104T>A (p.Leu35Ter)	rs200282964	0.00002
NM_003049.4(SLC10A1):c.102GTT[1] (p.Leu35del)
NM_003049.4(SLC10A1):c.603C>T (p.Ala201=)
NM_003049.4(SLC10A1):c.713_717del (p.Tyr238fs)
NM_003049.4(SLC10A1):c.71A>C (p.Asp24Ala)
NM_003049.4(SLC10A1):c.806T>G (p.Ile269Ser)

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