ClinVar Miner

Variants studied for Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1

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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
110 32 1226 682 26 2076

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CASR 109 32 1225 682 26 2074
ADCY5, CASR, CCDC14, CD86, CSTA, DTX3L, EAF2, FAM162A, HACD2, HEG1, HSPBAP1, ILDR1, IQCB1, ITGB5, KALRN, KPNA1, MIX23, MUC13, MYLK, OSBPL11, PARP14, PARP15, PARP9, PDIA5, ROPN1, SEC22A, SEMA5B, SLC12A8, SLC15A2, SLC49A4, SNX4, UMPS, WDR5B, ZNF148 0 0 1 0 0 1
CASR, CSTA 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 1
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 110 32 1226 682 26 2076

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