ClinVar Miner

List of variants studied for calcium metabolic disease by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_003052.5(SLC34A1):c.1416+5G>A rs202081023 0.00036
NM_000388.4(CASR):c.386G>A (p.Cys129Tyr) rs2074565392
NM_003052.5(SLC34A1):c.644+5G>A
NM_004069.6(AP2S1):c.44G>T (p.Arg15Leu) rs397514499
NM_006580.4(CLDN16):c.281_282insTGGT (p.Thr95fs) rs1719051110

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