ClinVar Miner

List of variants reported for not specified by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_006079.5(CITED2):c.479A>T (p.His160Leu) rs111814036 0.00211
NM_000306.4(POU1F1):c.370A>G (p.Met124Val) rs143373007 0.00183
NM_000426.4(LAMA2):c.6128A>G (p.Gln2043Arg) rs144155507 0.00063
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) rs36210422 0.00061
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517 0.00059
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg) rs147109895 0.00023
NM_014000.3(VCL):c.787A>T (p.Thr263Ser) rs142233726 0.00022
NM_000540.3(RYR1):c.7902C>A (p.Asn2634Lys) rs148041292 0.00015
NM_001105206.3(LAMA4):c.5270C>T (p.Pro1757Leu) rs200177134 0.00012
NM_001148.6(ANK2):c.1673T>C (p.Leu558Ser) rs139199018 0.00011
NM_153026.3(PRICKLE1):c.1601G>A (p.Arg534Gln) rs756192425 0.00011
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00006
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His) rs563762318 0.00006
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 0.00004
NM_005159.5(ACTC1):c.56_57insCA (p.Lys20fs) rs730880387 0.00004
NM_020975.6(RET):c.406G>A (p.Glu136Lys) rs79014735 0.00004
NM_000071.3(CBS):c.1280C>T (p.Pro427Leu) rs863223434 0.00003
NM_000335.5(SCN5A):c.3715G>C (p.Glu1239Gln) rs199473211 0.00003
NM_001148.6(ANK2):c.7136C>A (p.Thr2379Lys) rs753351853 0.00003
NM_020975.6(RET):c.884C>G (p.Thr295Arg) rs758159521 0.00003
NM_153033.5(KCTD7):c.506G>A (p.Arg169Gln) rs745917176 0.00003
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) rs121913293 0.00001
NM_001105206.3(LAMA4):c.1643T>C (p.Leu548Pro) rs1562683086 0.00001
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe) rs199472804
NM_000218.3(KCNQ1):c.1702G>A (p.Gly568Arg) rs199472807
NM_000218.3(KCNQ1):c.825CTC[1] (p.Ser277del) rs397508127
NM_000306.4(POU1F1):c.500A>C (p.Gln167Pro) rs1559614730
NM_000314.8(PTEN):c.193T>A (p.Tyr65Asn) rs587780005
NM_000314.8(PTEN):c.197A>T (p.Lys66Met) rs1564826805
NM_000314.8(PTEN):c.70G>C (p.Asp24His) rs786201995
NM_000516.7(GNAS):c.1006dup (p.Arg336fs) rs1569031388
NM_000516.7(GNAS):c.565_568del (p.Asp189fs) rs587776829
NM_000552.5(VWF):c.4082T>C (p.Leu1361Ser) rs61749408
NM_000891.3(KCNJ2):c.200G>A (p.Arg67Gln) rs199473368
NM_001035.3(RYR2):c.14246G>T (p.Gly4749Val) rs1558457775
NM_001035.3(RYR2):c.14383A>G (p.Lys4795Glu) rs1558462911
NM_001386393.1(PANK2):c.-5C>T rs746763863
NM_016203.4(PRKAG2):c.868A>G (p.Lys290Glu) rs869025499
NM_130839.5(UBE3A):c.489C>G (p.Ser163Arg) rs1566962361
NM_144573.4(NEXN):c.1108A>G (p.Thr370Ala) rs1557988169
NM_170707.4(LMNA):c.3G>C (p.Met1Ile) rs794728598

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