ClinVar Miner

List of variants in gene PSAP reported as benign for Krabbe disease

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_002778.4(PSAP):c.1432-22C>T rs885828 0.34727
NM_002778.4(PSAP):c.1431+116C>T rs749823 0.20609
NM_002778.4(PSAP):c.1540-34C>T rs4747202 0.13788
NM_002778.4(PSAP):c.1005+18C>T rs55829339 0.13764
NM_002778.4(PSAP):c.-4C>T rs2070188 0.12811
NM_002778.4(PSAP):c.909+32G>T rs41307569 0.06451
NM_002778.4(PSAP):c.*775G>A rs79662404 0.01440
NM_002778.4(PSAP):c.-10A>G rs76455588 0.01197
NM_002778.4(PSAP):c.78C>T (p.Thr26=) rs74145688 0.00850
NM_002778.4(PSAP):c.1452G>A (p.Ser484=) rs114389264 0.00778
NM_002778.4(PSAP):c.1380C>T (p.Pro460=) rs1049882 0.00284
NM_002778.4(PSAP):c.336C>T (p.Ser112=) rs370977178 0.00003
NM_002778.4(PSAP):c.1193-26G>A rs3747860
NM_002778.4(PSAP):c.570G>T (p.Gln190His) rs142272618

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