ClinVar Miner

List of variants reported as benign for Hoyeraal-Hreidarsson syndrome by Genome-Nilou Lab

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001082486.2(ACD):c.1295T>C (p.Val432Ala) rs6979 0.60624
NM_001082486.2(ACD):c.1298+20C>A rs67114979 0.13128
NM_001082486.2(ACD):c.413+3A>G rs8058187 0.12302
NM_001082486.2(ACD):c.1371G>T (p.Pro457=) rs14920 0.03535
NM_001082486.2(ACD):c.923G>A (p.Gly308Glu) rs147189192 0.00679
NM_001082486.2(ACD):c.1207-10C>T rs67185288 0.00536
NM_001082486.2(ACD):c.494-20C>T rs59443695 0.00465
NM_001082486.2(ACD):c.819C>T (p.Pro273=) rs138740815 0.00251
NM_001082486.2(ACD):c.1336C>T (p.Leu446=) rs1050346 0.00188
NM_001082486.2(ACD):c.80G>A (p.Arg27Gln) rs142507451 0.00135
NM_001082486.2(ACD):c.132C>T (p.Gly44=) rs138527794 0.00102

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