ClinVar Miner

List of variants reported as uncertain significance for familial hypoparathyroidism by Illumina Laboratory Services, Illumina

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_004752.4(GCM2):c.344-7T>C rs184620420 0.00161
NM_000388.4(CASR):c.-154T>A rs186365367 0.00101
NM_000388.4(CASR):c.6A>C (p.Ala2=) rs112042188 0.00098
NM_004752.4(GCM2):c.156C>T (p.Ser52=) rs147096473 0.00066
NM_000388.4(CASR):c.*923T>C rs201230484 0.00061
NM_004752.4(GCM2):c.1181A>C (p.Tyr394Ser) rs142287570 0.00050
NM_000388.4(CASR):c.1733-9A>G rs190731787 0.00044
NM_004752.4(GCM2):c.319G>A (p.Asp107Asn) rs61741855 0.00043
NM_000388.4(CASR):c.*1201C>T rs886057837 0.00039
NM_000388.4(CASR):c.2064C>T (p.Phe688=) rs150869744 0.00037
NM_000315.4(PTH):c.*55C>T rs780806029 0.00035
NM_004752.4(GCM2):c.*217T>A rs866777825 0.00026
NM_004752.4(GCM2):c.*746A>G rs886060975 0.00026
NM_004752.4(GCM2):c.1395C>T (p.His465=) rs139538731 0.00023
NM_004752.4(GCM2):c.*639C>T rs551025129 0.00021
NM_000388.4(CASR):c.*1169C>T rs200652347 0.00017
NM_000388.4(CASR):c.*1193C>T rs886057835 0.00017
NM_000388.4(CASR):c.*1197C>G rs886057836 0.00017
NM_004752.4(GCM2):c.1342A>G (p.Met448Val) rs147168542 0.00017
NM_004752.4(GCM2):c.180C>T (p.His60=) rs150244671 0.00017
NM_004752.4(GCM2):c.90+12G>C rs772701925 0.00015
NM_000388.4(CASR):c.1752G>A (p.Lys584=) rs138638329 0.00014
NM_004752.4(GCM2):c.*649T>C rs886060977 0.00013
NM_004752.4(GCM2):c.*607A>G rs771232878 0.00011
NM_000388.4(CASR):c.-137C>T rs201074178 0.00009
NM_004752.4(GCM2):c.*50G>A rs746217594 0.00009
NM_000388.4(CASR):c.1188A>G (p.Thr396=) rs200312817 0.00008
NM_004752.4(GCM2):c.1063G>A (p.Ala355Thr) rs764488668 0.00007
NM_000388.4(CASR):c.-111C>A rs201098532 0.00006
NM_004752.4(GCM2):c.1144G>A (p.Val382Met) rs371918069 0.00006
NM_000388.4(CASR):c.*251G>C rs904222689 0.00005
NM_004752.4(GCM2):c.*588A>G rs575580806 0.00005
NM_004752.4(GCM2):c.91-7C>T rs549670381 0.00005
NM_000388.4(CASR):c.2955C>T (p.Asn985=) rs199884115 0.00004
NM_000388.4(CASR):c.32T>C (p.Leu11Ser) rs200673016 0.00004
NM_000388.4(CASR):c.60C>T (p.Tyr20=) rs201564143 0.00004
NM_004752.4(GCM2):c.1364G>A (p.Arg455Gln) rs145103332 0.00004
NM_004752.4(GCM2):c.344-12T>C rs377314144 0.00004
NM_004752.4(GCM2):c.345G>A (p.Lys115=) rs1040019354 0.00004
NM_004752.4(GCM2):c.457-10G>A rs369032326 0.00004
NM_004752.4(GCM2):c.687G>A (p.Gly229=) rs755090999 0.00004
NM_000388.4(CASR):c.*103A>C rs199899073 0.00003
NM_000388.4(CASR):c.3168G>T (p.Val1056=) rs886057831 0.00002
NM_000388.4(CASR):c.930C>T (p.Tyr310=) rs201737357 0.00002
NM_000315.4(PTH):c.*97A>G rs574555824 0.00001
NM_000388.4(CASR):c.*1298A>G rs1470056406 0.00001
NM_000388.4(CASR):c.*625G>A rs886057833 0.00001
NM_000388.4(CASR):c.-10C>T rs753659949 0.00001
NM_000388.4(CASR):c.108G>A (p.Gly36=) rs781573002 0.00001
NM_000388.4(CASR):c.1923C>T (p.Pro641=) rs368093724 0.00001
NM_000388.4(CASR):c.2147G>A (p.Arg716His) rs201670662 0.00001
NM_000388.4(CASR):c.2255G>A (p.Arg752His) rs771529256 0.00001
NM_000388.4(CASR):c.2915C>T (p.Thr972Met) rs200620134 0.00001
NM_000388.4(CASR):c.3054C>T (p.Cys1018=) rs371038712 0.00001
NM_000388.4(CASR):c.649G>A (p.Asp217Asn) rs201091657 0.00001
NM_004752.4(GCM2):c.*630T>A rs886060978 0.00001
NM_004752.4(GCM2):c.*717C>T rs886060976 0.00001
NM_004752.4(GCM2):c.116G>A (p.Arg39Gln) rs534895356 0.00001
NM_004752.4(GCM2):c.1504A>C (p.Asn502His) rs533942394 0.00001
NM_000315.4(PTH):c.-33C>T rs745726399
NM_000315.4(PTH):c.-83T>C rs886048030
NM_000315.4(PTH):c.123C>A (p.Asn41Lys) rs755183877
NM_000315.4(PTH):c.191A>G (p.Asn64Ser) rs1370035454
NM_000388.4(CASR):c.*1011T>A rs922763349
NM_000388.4(CASR):c.*640G>T rs201855028
NM_000388.4(CASR):c.*790T>C rs886057834
NM_000388.4(CASR):c.-137C>A rs201074178
NM_000388.4(CASR):c.1307C>G (p.Thr436Ser) rs1553766916
NM_000388.4(CASR):c.1665T>C (p.Ile555=) rs201955278
NM_000388.4(CASR):c.183C>T (p.Ile61=) rs2074531684
NM_000388.4(CASR):c.2549C>G (p.Ala850Gly) rs373819680
NM_000388.4(CASR):c.3234A>T (p.Ser1078=) rs556263764
NM_004752.4(GCM2):c.*521C>T rs6936637
NM_004752.4(GCM2):c.*611T>C rs886060979
NM_004752.4(GCM2):c.*726dup rs567863142
NM_004752.4(GCM2):c.-74C>A rs2153156
NM_004752.4(GCM2):c.1162A>G (p.Lys388Glu) rs759712994
NM_004752.4(GCM2):c.1431T>A (p.Thr477=) rs780587572
NM_004752.4(GCM2):c.265C>G (p.Gln89Glu) rs886060981
NM_004752.4(GCM2):c.71A>C (p.Asn24Thr) rs1379979224
NM_004752.4(GCM2):c.783C>T (p.Tyr261=) rs534221748
NM_004752.4(GCM2):c.961G>A (p.Glu321Lys) rs886060980

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