ClinVar Miner

List of variants reported as benign for Hoyeraal-Hreidarsson syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001082486.2(ACD):c.1295T>C (p.Val432Ala) rs6979 0.60624
NM_022836.4(DCLRE1B):c.234T>C (p.His78=) rs3761936 0.15394
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
NC_000016.10:g.67660703A>G rs72547496 0.03001
NM_022836.4(DCLRE1B):c.1384G>A (p.Asp462Asn) rs28381079 0.01483
NM_001082486.2(ACD):c.923G>A (p.Gly308Glu) rs147189192 0.00679
NM_001082486.1(ACD):c.162C>T (p.Pro54=) rs73597595 0.00544
NM_001082486.2(ACD):c.1207-10C>T rs67185288 0.00536
NM_001082486.2(ACD):c.801C>T (p.Ala267=) rs72549181 0.00530
NM_001082486.2(ACD):c.494-20C>T rs59443695 0.00465
NM_001082486.2(ACD):c.819C>T (p.Pro273=) rs138740815 0.00251
NM_022836.4(DCLRE1B):c.1302C>T (p.His434=) rs144843243 0.00192
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_022836.4(DCLRE1B):c.1528A>T (p.Asn510Tyr) rs35397235 0.00126
NM_001082486.2(ACD):c.132C>T (p.Gly44=) rs138527794 0.00102
NM_001082486.2(ACD):c.444C>T (p.Leu148=) rs151132164 0.00096
NM_001082486.2(ACD):c.99+18G>A rs369046068 0.00036
NM_001082486.2(ACD):c.743-3dup rs1369632476

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