ClinVar Miner

List of variants in gene POMGNT2 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_032806.6(POMGNT2):c.762G>A (p.Lys254=) rs115870061 0.00429
NM_032806.6(POMGNT2):c.450A>G (p.Pro150=) rs142190930 0.00248
NM_032806.6(POMGNT2):c.153C>T (p.Ile51=) rs149543151 0.00092
NM_032806.6(POMGNT2):c.1602C>T (p.Tyr534=) rs143832191 0.00066
NM_032806.6(POMGNT2):c.561C>T (p.His187=) rs147429438 0.00059
NM_032806.6(POMGNT2):c.195A>G (p.Thr65=) rs199992681 0.00012
NM_032806.6(POMGNT2):c.454G>A (p.Val152Met) rs201114442 0.00011
NM_032806.6(POMGNT2):c.12G>A (p.Ser4=) rs368531523 0.00005
NM_032806.6(POMGNT2):c.363C>T (p.Thr121=) rs200345083 0.00005
NM_032806.6(POMGNT2):c.459C>T (p.Ala153=) rs373276653 0.00005
NM_032806.6(POMGNT2):c.1389C>T (p.Arg463=) rs756556274 0.00003
NM_032806.6(POMGNT2):c.81G>A (p.Glu27=) rs201572917 0.00003
NM_032806.6(POMGNT2):c.588C>T (p.Gly196=) rs755425952 0.00002
NM_032806.6(POMGNT2):c.852A>G (p.Leu284=) rs1553618336 0.00002
NM_032806.6(POMGNT2):c.106C>T (p.Leu36=) rs753784723 0.00001
NM_032806.6(POMGNT2):c.1494C>T (p.Ser498=) rs751826847 0.00001
NM_032806.6(POMGNT2):c.351C>T (p.Leu117=) rs1161648391 0.00001
NM_032806.6(POMGNT2):c.39G>A (p.Ser13=) rs59831271
NM_032806.6(POMGNT2):c.531C>T (p.Tyr177=)
NM_032806.6(POMGNT2):c.774C>T (p.Leu258=)

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