ClinVar Miner

List of variants reported as likely benign for autosomal dominant hypocalcemia 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000388.4(CASR):c.2610G>A (p.Glu870=) rs143738711 0.01002
NM_000388.4(CASR):c.748G>A (p.Glu250Lys) rs62269092 0.00163
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln) rs115230894 0.00086
NM_000388.4(CASR):c.1285C>T (p.His429Tyr) rs142818334 0.00073
NM_000388.4(CASR):c.915C>A (p.Ile305=) rs200528343 0.00051
NM_000388.4(CASR):c.2824G>A (p.Glu942Lys) rs76327999 0.00034
NM_000388.4(CASR):c.*87C>T rs202045621 0.00020
NM_000388.4(CASR):c.573G>A (p.Glu191=) rs141631116 0.00016
NM_000388.4(CASR):c.1008G>C (p.Lys336Asn) rs548403340

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