ClinVar Miner

List of variants in gene CASR reported as uncertain significance for Hypocalciuric hypercalcemia, familial, type 1

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Total variants: 46
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HGVS dbSNP
NM_000388.4(CASR):c.*1011T>A
NM_000388.4(CASR):c.*103A>C rs199899073
NM_000388.4(CASR):c.*1169C>T rs200652347
NM_000388.4(CASR):c.*1193C>T rs886057835
NM_000388.4(CASR):c.*1197C>G rs886057836
NM_000388.4(CASR):c.*1201C>T rs886057837
NM_000388.4(CASR):c.*1298A>G
NM_000388.4(CASR):c.*251G>C
NM_000388.4(CASR):c.*625G>A rs886057833
NM_000388.4(CASR):c.*640G>T rs201855028
NM_000388.4(CASR):c.*790T>C rs886057834
NM_000388.4(CASR):c.*923T>C rs201230484
NM_000388.4(CASR):c.-10C>T rs753659949
NM_000388.4(CASR):c.-111C>A rs201098532
NM_000388.4(CASR):c.-137C>A rs201074178
NM_000388.4(CASR):c.-137C>T
NM_000388.4(CASR):c.-154T>A rs186365367
NM_000388.4(CASR):c.108G>A (p.Gly36=) rs781573002
NM_000388.4(CASR):c.1188A>G (p.Thr396=) rs200312817
NM_000388.4(CASR):c.11A>G (p.Tyr4Cys) rs1171102282
NM_000388.4(CASR):c.1307C>G (p.Thr436Ser)
NM_000388.4(CASR):c.1665T>C (p.Ile555=) rs201955278
NM_000388.4(CASR):c.1693T>C (p.Cys565Arg) rs1559967708
NM_000388.4(CASR):c.1733-9A>G rs190731787
NM_000388.4(CASR):c.1752G>A (p.Lys584=) rs138638329
NM_000388.4(CASR):c.183C>T (p.Ile61=)
NM_000388.4(CASR):c.1923C>T (p.Pro641=) rs368093724
NM_000388.4(CASR):c.2064C>T (p.Phe688=) rs150869744
NM_000388.4(CASR):c.2147G>A (p.Arg716His) rs201670662
NM_000388.4(CASR):c.2255G>A (p.Arg752His) rs771529256
NM_000388.4(CASR):c.2339C>A (p.Thr780Asn) rs754332943
NM_000388.4(CASR):c.2549C>G (p.Ala850Gly)
NM_000388.4(CASR):c.2637C>G (p.His879Gln) rs1576878230
NM_000388.4(CASR):c.2915C>T (p.Thr972Met) rs200620134
NM_000388.4(CASR):c.2955C>T (p.Asn985=) rs199884115
NM_000388.4(CASR):c.3054C>T (p.Cys1018=) rs371038712
NM_000388.4(CASR):c.3168G>T (p.Val1056=) rs886057831
NM_000388.4(CASR):c.3234A>T (p.Ser1078=) rs556263764
NM_000388.4(CASR):c.32T>C (p.Leu11Ser) rs200673016
NM_000388.4(CASR):c.516A>T (p.Arg172Ser) rs1114167368
NM_000388.4(CASR):c.60C>T (p.Tyr20=) rs201564143
NM_000388.4(CASR):c.610T>A (p.Phe204Ile) rs1060499700
NM_000388.4(CASR):c.649G>A (p.Asp217Asn) rs201091657
NM_000388.4(CASR):c.6A>C (p.Ala2=) rs112042188
NM_000388.4(CASR):c.848T>C (p.Ile283Thr) rs142745096
NM_000388.4(CASR):c.930C>T (p.Tyr310=) rs201737357

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