ClinVar Miner

List of variants in gene GALNT12 studied for not specified

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_024642.5(GALNT12):c.897A>G (p.Gln299=) rs16917929 0.04000
NM_024642.5(GALNT12):c.1605+4G>A rs79574929 0.01136
NM_024642.5(GALNT12):c.781G>A (p.Asp261Asn) rs41306504 0.01010
NM_024642.5(GALNT12):c.375C>T (p.Cys125=) rs114902755 0.00634
NM_024642.5(GALNT12):c.579A>G (p.Gly193=) rs146370762 0.00613
NM_024642.5(GALNT12):c.1677C>T (p.Phe559=) rs112898261 0.00465
NM_024642.5(GALNT12):c.372-7T>A rs2295923 0.00235
NM_024642.5(GALNT12):c.1497C>T (p.Asn499=) rs35632007 0.00208
NM_024642.5(GALNT12):c.840C>T (p.Asp280=) rs150946638 0.00054
NM_024642.5(GALNT12):c.359G>C (p.Arg120Pro) rs202137559 0.00045
NM_024642.5(GALNT12):c.750G>A (p.Ser250=) rs146690078 0.00036
NM_024642.5(GALNT12):c.679C>G (p.Leu227Val) rs773546298 0.00019
NM_024642.5(GALNT12):c.546C>T (p.His182=) rs142210894 0.00009
NM_024642.4(GALNT12):c.732-?_1035+?del
NM_024642.5(GALNT12):c.136_138delinsAGA (p.Gly46Arg) rs878855093
NM_024642.5(GALNT12):c.1392C>G (p.Pro464=) rs35616709
NM_024642.5(GALNT12):c.874_876delinsAA (p.Glu292fs) rs1060502969

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