ClinVar Miner

List of variants reported as benign for Hyperglycinuria by Genome-Nilou Lab

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_020208.4(SLC6A20):c.417T>C (p.Cys139=) rs758386 0.96062
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_020208.4(SLC6A20):c.263-32A>G rs2252547 0.55677
NM_181776.3(SLC36A2):c.187C>T (p.Leu63=) rs192192 0.49866
NM_001003841.3(SLC6A19):c.663+48C>T rs13180809 0.38844
NM_001003841.3(SLC6A19):c.1017-4G>A rs35329108 0.25295
NM_020208.4(SLC6A20):c.1463+14G>A rs2191027 0.21012
NM_020208.4(SLC6A20):c.693+4C>T rs2276858 0.03271

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