ClinVar Miner

List of variants reported as uncertain significance for microcephaly with intellectual disability by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_024596.5(MCPH1):c.477A>T (p.Ser159=) rs41313948 0.00328
NM_024596.5(MCPH1):c.2401A>G (p.Ser801Gly) rs45540031 0.00217
NM_024596.5(MCPH1):c.182A>G (p.Asp61Gly) rs61749465 0.00191
NM_024596.5(MCPH1):c.2466G>A (p.Gln822=) rs35614690 0.00169
NM_024596.5(MCPH1):c.1716C>T (p.Asn572=) rs141218500 0.00134
NM_024596.5(MCPH1):c.1951G>A (p.Val651Ile) rs138218829 0.00089
NM_024596.5(MCPH1):c.2180C>T (p.Pro727Leu) rs199861426 0.00086
NM_024596.5(MCPH1):c.1193C>T (p.Ala398Val) rs202241113 0.00080
NM_024596.5(MCPH1):c.1369G>A (p.Glu457Lys) rs201039834 0.00067
NM_024596.5(MCPH1):c.*285G>A rs182479249 0.00064
NM_024596.5(MCPH1):c.783T>A (p.Asp261Glu) rs199700538 0.00046
NM_024596.5(MCPH1):c.664T>C (p.Cys222Arg) rs41313952 0.00037
NM_024596.5(MCPH1):c.1785T>C (p.Ser595=) rs146744659 0.00035
NM_024596.5(MCPH1):c.115-14C>T rs200346652 0.00028
NM_024596.5(MCPH1):c.2294C>G (p.Ser765Trp) rs200820759 0.00027
NM_024596.5(MCPH1):c.489T>C (p.Thr163=) rs191104356 0.00026
NM_024596.5(MCPH1):c.1214T>C (p.Leu405Pro) rs556803400 0.00022
NM_024596.5(MCPH1):c.1226A>T (p.Glu409Val) rs200518541 0.00021
NM_024596.5(MCPH1):c.1752A>G (p.Pro584=) rs372450763 0.00021
NM_024596.5(MCPH1):c.1825+14C>G rs2583 0.00019
NM_024596.5(MCPH1):c.2295G>A (p.Ser765=) rs200401940 0.00019
NM_024596.5(MCPH1):c.775A>C (p.Lys259Gln) rs375695403 0.00018
NM_024596.5(MCPH1):c.2199C>G (p.His733Gln) rs202015253 0.00016
NM_024596.5(MCPH1):c.2417C>T (p.Ala806Val) rs202101904 0.00016
NM_024596.5(MCPH1):c.2499G>T (p.Leu833Phe) rs34009706 0.00016
NM_024596.5(MCPH1):c.2108G>A (p.Arg703His) rs370275760 0.00013
NM_024596.5(MCPH1):c.2145G>A (p.Trp715Ter) rs201599657 0.00013
NM_024596.5(MCPH1):c.1189G>A (p.Val397Met) rs539491399 0.00012
NM_024596.5(MCPH1):c.2077C>T (p.Arg693Cys) rs376996626 0.00009
NM_024596.5(MCPH1):c.869A>T (p.Lys290Ile) rs200814676 0.00009
NM_024596.5(MCPH1):c.2395C>T (p.Pro799Ser) rs369127299 0.00008
NM_024596.5(MCPH1):c.2214C>T (p.Pro738=) rs35344839 0.00007
NM_024596.5(MCPH1):c.729A>T (p.Gly243=) rs370543894 0.00007
NM_024596.5(MCPH1):c.2137-7C>T rs375022779 0.00006
NM_024596.5(MCPH1):c.445G>A (p.Val149Ile) rs201403389 0.00006
NM_024596.5(MCPH1):c.641T>G (p.Leu214Trp) rs763114241 0.00006
NM_024596.5(MCPH1):c.1052G>T (p.Ser351Ile) rs145820898 0.00005
NM_024596.5(MCPH1):c.1291C>T (p.Pro431Ser) rs376658910 0.00005
NM_024596.5(MCPH1):c.*295A>C rs772797157 0.00004
NM_024596.5(MCPH1):c.*388G>C rs948143436 0.00004
NM_024596.5(MCPH1):c.1069A>C (p.Lys357Gln) rs779574623 0.00004
NM_024596.5(MCPH1):c.1233A>G (p.Ser411=) rs201026769 0.00004
NM_024596.5(MCPH1):c.322-1G>C rs201721894 0.00004
NM_024596.5(MCPH1):c.*122T>A rs950454282 0.00003
NM_024596.5(MCPH1):c.*86A>G rs886063069 0.00003
NM_024596.5(MCPH1):c.1298C>A (p.Ser433Tyr) rs757893077 0.00003
NM_024596.5(MCPH1):c.1779G>C (p.Glu593Asp) rs750376557 0.00003
NM_024596.5(MCPH1):c.1876G>A (p.Gly626Ser) rs189380942 0.00003
NM_024596.5(MCPH1):c.2105C>T (p.Ala702Val) rs751512309 0.00003
NM_024596.5(MCPH1):c.561G>T (p.Arg187Ser) rs776125109 0.00003
NM_024596.5(MCPH1):c.706G>C (p.Asp236His) rs886063057 0.00003
NM_024596.5(MCPH1):c.*277A>C rs554279740 0.00002
NM_024596.5(MCPH1):c.1729G>A (p.Glu577Lys) rs561690042 0.00002
NM_024596.5(MCPH1):c.*412C>T rs886063071 0.00001
NM_024596.5(MCPH1):c.*433C>G rs1159852630 0.00001
NM_024596.5(MCPH1):c.1390G>A (p.Val464Ile) rs531526435 0.00001
NM_024596.5(MCPH1):c.148G>A (p.Val50Ile) rs779924077 0.00001
NM_024596.5(MCPH1):c.192G>A (p.Gln64=) rs767548647 0.00001
NM_024596.5(MCPH1):c.1987G>A (p.Val663Ile) rs752602108 0.00001
NM_024596.5(MCPH1):c.2078G>A (p.Arg693His) rs370011131 0.00001
NM_024596.5(MCPH1):c.285T>C (p.Asn95=) rs187466318 0.00001
NM_024596.5(MCPH1):c.340A>G (p.Lys114Glu) rs371941778 0.00001
NM_024596.5(MCPH1):c.502A>G (p.Ile168Val) rs752860887 0.00001
NM_024596.5(MCPH1):c.*129C>T rs548238521
NM_024596.5(MCPH1):c.*388G>T rs948143436
NM_024596.5(MCPH1):c.*38C>G rs761964470
NM_024596.5(MCPH1):c.*457C>G rs146726854
NM_024596.5(MCPH1):c.*64T>C rs1798042052
NM_024596.5(MCPH1):c.-39G>A rs768188163
NM_024596.5(MCPH1):c.-41A>C rs769260580
NM_024596.5(MCPH1):c.1026C>T (p.His342=) rs200289785
NM_024596.5(MCPH1):c.114+6A>G rs377320662
NM_024596.5(MCPH1):c.1188C>A (p.His396Gln) rs570511077
NM_024596.5(MCPH1):c.1403C>A (p.Thr468Asn) rs548329168
NM_024596.5(MCPH1):c.1589A>T (p.Glu530Val) rs200823026
NM_024596.5(MCPH1):c.1677A>G (p.Lys559=) rs886063058
NM_024596.5(MCPH1):c.1956G>A (p.Met652Ile) rs1808650754
NM_024596.5(MCPH1):c.1986C>G (p.Val662=) rs754730567
NM_024596.5(MCPH1):c.2254C>G (p.Arg752Gly) rs373658774
NM_024596.5(MCPH1):c.2435C>G (p.Ser812Cys) rs755280764
NM_024596.5(MCPH1):c.2462C>T (p.Thr821Ile) rs1586908818
NM_024596.5(MCPH1):c.433C>T (p.Leu145=) rs139607465
NM_024596.5(MCPH1):c.437-15T>C rs886063056
NM_024596.5(MCPH1):c.605A>G (p.His202Arg) rs369302385

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