List of variants in gene combination CHSY1, LOC130058068 reported as benign for Temtamy preaxial brachydactyly syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_014918.5(CHSY1):c.303G>C (p.Arg101=)	rs7176149	0.24315
NM_014918.5(CHSY1):c.57C>T (p.Gly19=)	rs7175303	0.23372
NM_014918.5(CHSY1):c.114C>T (p.Gly38=)	rs773533401	0.00867
NM_014918.5(CHSY1):c.39G>A (p.Leu13=)	rs764100516	0.00178
NM_014918.5(CHSY1):c.320+6C>T	rs553473414	0.00009

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