ClinVar Miner

List of variants reported as benign for parathyroid gland disorder by Genome-Nilou Lab

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000388.4(CASR):c.2244G>C (p.Pro748=) rs2036400 0.97432
NM_000388.4(CASR):c.3031G>C (p.Glu1011Gln) rs1801726 0.91749
NM_000388.4(CASR):c.492+19G>A rs9869985 0.91296
NM_000516.7(GNAS):c.393C>T (p.Ile131=) rs7121 0.56988
NM_000388.4(CASR):c.1609-89C>T rs4678174 0.55250
NM_000315.4(PTH):c.-5-10G>A rs694 0.50325
NM_000383.4(AIRE):c.995+109A>G rs1078480 0.49492
NM_000383.4(AIRE):c.1578T>C (p.Asp526=) rs1133779 0.49415
NM_000383.4(AIRE):c.1197T>C (p.Ala399=) rs1800521 0.39834
NM_000383.4(AIRE):c.1096-288G>A rs933150 0.30258
NM_000383.4(AIRE):c.681C>T (p.Gly227=) rs1055311 0.21613
NM_000383.4(AIRE):c.588C>T (p.Ser196=) rs878081 0.18544
NM_000315.4(PTH):c.247C>A (p.Arg83=) rs6256 0.12676
NM_000383.4(AIRE):c.1095+6G>A rs1800525 0.10544
NM_000383.4(AIRE):c.834C>G (p.Ser278Arg) rs1800520
NM_000388.4(CASR):c.*60A>T rs4677948
NM_001001433.3(STX16):c.540G>A (p.Gln180=) rs2296524

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