List of variants in gene SLC36A2 studied for hyperglycinuria

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_181776.3(SLC36A2):c.1383G>A (p.Gln461=)	rs369907	0.57211
NM_181776.3(SLC36A2):c.1290G>A (p.Thr430=)	rs431240	0.57195
NM_181776.3(SLC36A2):c.187C>T (p.Leu63=)	rs192192	0.49866
NM_181776.3(SLC36A2):c.1044C>T (p.Ala348=)	rs34910192	0.01216
NM_181776.3(SLC36A2):c.260G>T (p.Gly87Val)	rs77010315	0.00869
NM_181776.3(SLC36A2):c.273G>A (p.Leu91=)	rs35403441	0.00541
NM_181776.3(SLC36A2):c.1191C>T (p.Ala397=)	rs149847490	0.00308
NM_181776.3(SLC36A2):c.915C>T (p.Ile305=)	rs138947074	0.00283
NM_181776.3(SLC36A2):c.882C>T (p.His294=)	rs74403861	0.00146
NM_181776.3(SLC36A2):c.426C>T (p.His142=)	rs79265984	0.00096
NM_181776.3(SLC36A2):c.1392C>T (p.Asp464=)	rs144651323	0.00048
NM_181776.3(SLC36A2):c.323G>A (p.Cys108Tyr)	rs200123093	0.00029
NM_181776.3(SLC36A2):c.1181-5T>C	rs190486100	0.00017
NM_181776.3(SLC36A2):c.766T>C (p.Leu256=)	rs780286885	0.00008
NM_181776.3(SLC36A2):c.448G>A (p.Val150Met)	rs766388628	0.00001

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