ClinVar Miner

List of variants reported as not provided for parathyroid gland disorder by GenomeConnect - Invitae Patient Insights Network

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000383.4(AIRE):c.1334G>A (p.Arg445Gln) rs753878067 0.00002
NM_001370259.2(MEN1):c.1354C>T (p.Arg452Trp) rs863224810 0.00001
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000388.4(CASR):c.209G>A (p.Trp70Ter) rs2107627458
NM_000388.4(CASR):c.2278A>T (p.Ile760Phe) rs1453953571
NM_000388.4(CASR):c.2990C>A (p.Ser997Tyr) rs1244383237
NM_000388.4(CASR):c.494T>G (p.Val165Gly) rs1559958757
NM_001370259.2(MEN1):c.1A>G (p.Met1Val) rs386134250

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