ClinVar Miner

List of variants in gene HS6ST2 studied for X-linked syndromic intellectual disability

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001394073.1(HS6ST2):c.975A>G (p.Ala325=) rs143752287 0.01066
NM_001394073.1(HS6ST2):c.652A>C (p.Lys218Gln) rs746316980 0.00005
NM_001394073.1(HS6ST2):c.155C>T (p.Ala52Val) rs1343137006 0.00001
NM_001394073.1(HS6ST2):c.1853C>T (p.Pro618Leu) rs1425420882 0.00001
NM_001394073.1(HS6ST2):c.322G>A (p.Gly108Ser) rs1314814300 0.00001
NM_001394073.1(HS6ST2):c.916G>C (p.Gly306Arg) rs866919041 0.00001
NM_001394073.1(HS6ST2):c.1182G>C (p.Arg394Ser) rs1448659572
NM_001394073.1(HS6ST2):c.1331A>G (p.Asn444Ser)
NM_001394073.1(HS6ST2):c.67G>T (p.Val23Phe) rs1276990594

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