ClinVar Miner

List of variants in gene CNNM2 studied for hypomagnesemia, seizures, and intellectual disability

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_017649.5(CNNM2):c.2418+20T>C rs943036 0.40434
NM_017649.5(CNNM2):c.1842T>C (p.Ser614=) rs2275271 0.40382
NM_017649.5(CNNM2):c.360C>T (p.Phe120=) rs142276906 0.00157
NM_017649.5(CNNM2):c.2073+14T>C rs184406418 0.00150
NM_017649.5(CNNM2):c.2233+17C>T rs201729946 0.00091
NM_017649.5(CNNM2):c.903C>T (p.Tyr301=) rs140279763 0.00044
NM_017649.5(CNNM2):c.604G>A (p.Ala202Thr) rs75800852 0.00034
NM_017649.5(CNNM2):c.342G>T (p.Thr114=) rs375416482 0.00029
NM_017649.5(CNNM2):c.47G>A (p.Gly16Glu) rs370580602 0.00015
NM_017649.5(CNNM2):c.804G>T (p.Leu268=) rs148386496 0.00013
NM_017649.5(CNNM2):c.2336A>G (p.Asn779Ser) rs201067221 0.00009
NM_017649.5(CNNM2):c.2059G>A (p.Val687Ile) rs779494027 0.00003
NM_017649.5(CNNM2):c.2565C>T (p.Asn855=) rs540196504 0.00003
NM_017649.5(CNNM2):c.1765+11T>C rs901937775 0.00001
NM_017649.5(CNNM2):c.2012C>T (p.Ala671Val) rs375262395 0.00001
NM_017649.5(CNNM2):c.2073+8G>T rs1302420255 0.00001
NM_017649.5(CNNM2):c.2322A>G (p.Thr774=) rs756002318 0.00001
NM_017649.5(CNNM2):c.237G>A (p.Leu79=) rs777820126 0.00001
NM_017649.5(CNNM2):c.2384C>T (p.Ser795Leu) rs1564873187 0.00001
NC_000010.10:g.(?_104678237)_(104816721_?)del
NM_017649.5(CNNM2):c.1016G>A (p.Gly339Asp) rs1845546472
NM_017649.5(CNNM2):c.1067G>A (p.Gly356Glu)
NM_017649.5(CNNM2):c.1069G>A (p.Glu357Lys) rs786205910
NM_017649.5(CNNM2):c.1094C>T (p.Ser365Phe) rs1845549123
NM_017649.5(CNNM2):c.118A>G (p.Ile40Val) rs2134148877
NM_017649.5(CNNM2):c.1253T>C (p.Leu418Pro) rs1845553116
NM_017649.5(CNNM2):c.143T>C (p.Leu48Pro) rs1845510486
NM_017649.5(CNNM2):c.1457G>A (p.Gly486Glu)
NM_017649.5(CNNM2):c.1620A>C (p.Lys540Asn)
NM_017649.5(CNNM2):c.1622-56334_1622-56333del rs1371214636
NM_017649.5(CNNM2):c.1804C>T (p.Arg602Ter) rs2134338484
NM_017649.5(CNNM2):c.1842_1844del (p.Ser614_Glu615delinsArg) rs2065263811
NM_017649.5(CNNM2):c.2240A>G (p.Asn747Ser) rs988049940
NM_017649.5(CNNM2):c.2318C>T (p.Pro773Leu) rs1057524606
NM_017649.5(CNNM2):c.2389C>T (p.Arg797Ter) rs2065688398
NM_017649.5(CNNM2):c.274G>C (p.Ala92Pro)
NM_017649.5(CNNM2):c.312_315dup (p.Tyr106fs) rs2134149229
NM_017649.5(CNNM2):c.364G>A (p.Glu122Lys) rs786205909
NM_017649.5(CNNM2):c.522dup (p.Ile175fs) rs2134149603
NM_017649.5(CNNM2):c.551A>G (p.Glu184Gly)
NM_017649.5(CNNM2):c.557G>C (p.Ser186Thr)
NM_017649.5(CNNM2):c.569A>C (p.Tyr190Ser)
NM_017649.5(CNNM2):c.778A>T (p.Ile260Phe)
NM_017649.5(CNNM2):c.806C>G (p.Ser269Trp) rs794726858
NM_017649.5(CNNM2):c.942C>G (p.Tyr314Ter) rs1845544924
NM_017649.5(CNNM2):c.955CTG[2] (p.Leu321del) rs1845545201
NM_017649.5(CNNM2):c.970G>A (p.Val324Met) rs1845545378
NM_017649.5(CNNM2):c.970G>C (p.Val324Leu)
NM_017649.5(CNNM2):c.992C>T (p.Thr331Ile)

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