ClinVar Miner

List of variants in gene PAPSS2 reported as benign for bone development disease

Included ClinVar conditions (618):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001015880.2(PAPSS2):c.28G>A (p.Glu10Lys) rs17173698 0.01330
NM_001015880.2(PAPSS2):c.841A>T (p.Met281Leu) rs45624631 0.00958
NM_001015880.2(PAPSS2):c.886G>A (p.Val296Met) rs45467596 0.00863
NM_001015880.2(PAPSS2):c.753+4A>C rs17125280 0.00427
NM_001015880.2(PAPSS2):c.375C>T (p.Phe125=) rs145230931 0.00368
NM_001015880.2(PAPSS2):c.477C>T (p.Asp159=) rs141604779 0.00235
NM_001015880.2(PAPSS2):c.1403C>T (p.Ala468Val) rs34097979 0.00227
NM_001015880.2(PAPSS2):c.861A>G (p.Leu287=) rs150727538 0.00196
NM_001015880.2(PAPSS2):c.276T>C (p.Ser92=) rs17124941 0.00178
NM_001015880.2(PAPSS2):c.267C>T (p.Leu89=) rs144784084 0.00066
NM_001015880.2(PAPSS2):c.754-6T>C rs202210032 0.00014
NM_001015880.2(PAPSS2):c.1401C>T (p.His467=) rs145487582 0.00012
NM_001015880.2(PAPSS2):c.27+18G>A rs750670771 0.00009
NM_001015880.2(PAPSS2):c.145+14AT[10] rs72025574
NM_001015880.2(PAPSS2):c.145+14AT[6] rs72025574
NM_001015880.2(PAPSS2):c.145+14AT[7] rs72025574
NM_001015880.2(PAPSS2):c.145+14AT[8] rs72025574
NM_001015880.2(PAPSS2):c.381+20_381+24dup rs367885911
NM_001015880.2(PAPSS2):c.381+24del rs367885911
NM_001015880.2(PAPSS2):c.612C>T (p.His204=)
NM_001015880.2(PAPSS2):c.865+17G>A rs2302405

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