ClinVar Miner

List of variants studied for Renal hypomagnesemia 6

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Total variants: 67
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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.*879G>A rs1046411 0.32109
NM_017649.5(CNNM2):c.*3C>T rs2296568 0.10834
NM_017649.5(CNNM2):c.2310C>T (p.Ala770=) rs943037 0.08142
NM_017649.5(CNNM2):c.2544C>T (p.Asp848=) rs35647154 0.05419
NM_017649.5(CNNM2):c.113G>A (p.Arg38Gln) rs76057237 0.05045
NM_017649.5(CNNM2):c.1622-6C>T rs74464353 0.01345
NM_017649.5(CNNM2):c.*794G>A rs41287480 0.01310
NM_017649.5(CNNM2):c.*904G>C rs145537350 0.00916
NM_017649.5(CNNM2):c.*619A>G rs138807273 0.00554
NM_017649.5(CNNM2):c.564C>T (p.Ser188=) rs117691462 0.00404
NM_017649.5(CNNM2):c.*891G>T rs185818969 0.00291
NM_017649.5(CNNM2):c.*52C>T rs367767821 0.00271
NM_017649.5(CNNM2):c.*528G>A rs3740388 0.00255
NM_017649.5(CNNM2):c.1134C>T (p.Leu378=) rs2297785 0.00253
NM_017649.5(CNNM2):c.2073+14T>C rs184406418 0.00150
NM_017649.5(CNNM2):c.*519G>A rs746759097 0.00062
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.1515C>T (p.Pro505=) rs144140948 0.00026
NM_017649.5(CNNM2):c.*311G>A rs376027544 0.00023
NM_017649.5(CNNM2):c.*543A>G rs145025818 0.00018
NM_017649.5(CNNM2):c.*34C>T rs202217837 0.00015
NM_017649.5(CNNM2):c.*1162G>A rs148051463 0.00014
NM_017649.5(CNNM2):c.1764C>T (p.Tyr588=) rs747058788 0.00011
NM_017649.5(CNNM2):c.*455C>T rs3740389 0.00006
NM_017649.5(CNNM2):c.*606G>C rs762576641 0.00006
NM_017649.5(CNNM2):c.2400G>A (p.Ser800=) rs775113694 0.00005
NM_017649.5(CNNM2):c.411C>G (p.Gly137=) rs745992917 0.00004
NM_017649.5(CNNM2):c.801C>T (p.Cys267=) rs367789750 0.00004
NM_017649.5(CNNM2):c.90C>T (p.Arg30=) rs202027427 0.00004
NM_017649.5(CNNM2):c.849C>T (p.Asp283=) rs755020801 0.00003
NM_017649.5(CNNM2):c.*834C>T rs886046677 0.00002
NM_017649.5(CNNM2):c.621C>T (p.Ser207=) rs767302259 0.00002
NM_017649.5(CNNM2):c.*1246G>C rs553490290 0.00001
NM_017649.5(CNNM2):c.*205G>A rs886046673 0.00001
NM_017649.5(CNNM2):c.*310C>T rs1253907298 0.00001
NM_017649.5(CNNM2):c.1128C>T (p.Ile376=) rs770748859 0.00001
NM_017649.5(CNNM2):c.2004C>T (p.Asn668=) rs750649461 0.00001
NM_017649.5(CNNM2):c.2012C>T (p.Ala671Val) rs375262395 0.00001
NM_017649.5(CNNM2):c.2190C>T (p.Thr730=) rs1021927212 0.00001
NM_017649.5(CNNM2):c.*159G>C rs1328714971
NM_017649.5(CNNM2):c.*53G>A rs886046672
NM_017649.5(CNNM2):c.*686T>A rs886046674
NM_017649.5(CNNM2):c.*690C>T rs886046675
NM_017649.5(CNNM2):c.*811A>G rs886046676
NM_017649.5(CNNM2):c.-110A>T rs555951352
NM_017649.5(CNNM2):c.-65G>A rs886046668
NM_017649.5(CNNM2):c.1003G>A (p.Asp335Asn)
NM_017649.5(CNNM2):c.117del (p.Ile40fs) rs1564803221
NM_017649.5(CNNM2):c.1263C>G (p.Thr421=) rs762466052
NM_017649.5(CNNM2):c.1291G>A (p.Glu431Lys)
NM_017649.5(CNNM2):c.1310G>A (p.Gly437Glu)
NM_017649.5(CNNM2):c.1621+21dup rs1845563839
NM_017649.5(CNNM2):c.1703C>T (p.Thr568Ile) rs387906975
NM_017649.5(CNNM2):c.210G>A (p.Glu70=) rs886046670
NM_017649.5(CNNM2):c.2125G>T (p.Ala709Ser) rs748696153
NM_017649.5(CNNM2):c.2188A>G (p.Thr730Ala) rs886046671
NM_017649.5(CNNM2):c.2355G>C (p.Ser785=) rs189582508
NM_017649.5(CNNM2):c.2384C>A (p.Ser795Ter)
NM_017649.5(CNNM2):c.2385G>T (p.Ser795=) rs370749106
NM_017649.5(CNNM2):c.2430G>T (p.Gln810His) rs2065703394
NM_017649.5(CNNM2):c.2576G>A (p.Cys859Tyr)
NM_017649.5(CNNM2):c.296C>G (p.Thr99Ser) rs1845519788
NM_017649.5(CNNM2):c.49C>G (p.Gln17Glu) rs886046669

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