ClinVar Miner

List of variants in gene SAMD9 reported as likely benign for calcium metabolic disease

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_017654.4(SAMD9):c.1360G>A (p.Ala454Thr) rs117649834 0.03101
NM_017654.4(SAMD9):c.4733T>C (p.Ile1578Thr) rs144380633 0.00655
NM_017654.4(SAMD9):c.1347T>C (p.Asn449=) rs150107667 0.00542
NM_017654.4(SAMD9):c.3008A>G (p.Asn1003Ser) rs146087534 0.00091
NM_017654.4(SAMD9):c.1860A>G (p.Lys620=) rs77922936 0.00078
NM_017654.4(SAMD9):c.1812A>G (p.Gln604=) rs181767582
NM_017654.4(SAMD9):c.3651dup (p.Asp1218Ter) rs199887936

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