ClinVar Miner

List of variants in gene MCPH1 reported as uncertain significance for microcephaly with intellectual disability

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 118
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HGVS dbSNP gnomAD frequency
NM_024596.5(MCPH1):c.2453-14C>T rs17077744 0.00931
NM_024596.5(MCPH1):c.477A>T (p.Ser159=) rs41313948 0.00328
NM_024596.5(MCPH1):c.1495G>A (p.Val499Met) rs146586991 0.00302
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.1349A>C (p.Lys450Thr) rs77959215 0.00160
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.1193C>T (p.Ala398Val) rs202241113 0.00080
NM_024596.5(MCPH1):c.1273T>A (p.Tyr425Asn) rs201261159 0.00067
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.1061T>C (p.Val354Ala) rs148526209 0.00054
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.867G>A (p.Gln289=) rs201231900 0.00019
NM_024596.5(MCPH1):c.775A>C (p.Lys259Gln) rs375695403 0.00018
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.1189G>A (p.Val397Met) rs539491399 0.00012
NM_024596.5(MCPH1):c.1742A>G (p.Glu581Gly) rs35402812 0.00011
NM_024596.5(MCPH1):c.2452+9C>A rs200446680 0.00011
NM_024596.5(MCPH1):c.1186C>A (p.His396Asn) rs201128010 0.00010
NM_024596.5(MCPH1):c.1679G>T (p.Ser560Ile) rs201405704 0.00010
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.729A>T (p.Gly243=) rs370543894 0.00007
NM_024596.5(MCPH1):c.1477C>T (p.Arg493Cys) rs757646355 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.652C>T (p.Arg218Cys) rs757012933 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.1113C>T (p.Cys371=) rs587783732 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.149T>G (p.Val50Gly) rs566242931 0.00003
NM_024596.5(MCPH1):c.151A>G (p.Ile51Val) rs538316396 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.135A>C (p.Lys45Asn) rs374363568 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.167A>G (p.Tyr56Cys) rs759874234 0.00001
NM_024596.5(MCPH1):c.192G>A (p.Gln64=) rs767548647 0.00001
NM_024596.5(MCPH1):c.1936-10A>G rs587783736 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.898A>G (p.Ile300Val) rs587783743 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.1244A>G (p.Tyr415Cys)
NM_024596.5(MCPH1):c.1281G>T (p.Glu427Asp) rs754200749
NM_024596.5(MCPH1):c.1403C>A (p.Thr468Asn) rs548329168
NM_024596.5(MCPH1):c.1430C>T (p.Thr477Ile) rs926140350
NM_024596.5(MCPH1):c.1561G>T (p.Glu521Ter) rs572671721
NM_024596.5(MCPH1):c.1589A>T (p.Glu530Val) rs200823026
NM_024596.5(MCPH1):c.1616A>G (p.Asp539Gly) rs587783734
NM_024596.5(MCPH1):c.1677A>G (p.Lys559=) rs886063058
NM_024596.5(MCPH1):c.1725_1727del (p.Glu575_Gly576delinsAsp) rs1585816128
NM_024596.5(MCPH1):c.1806A>C (p.Leu602Phe) rs34418490
NM_024596.5(MCPH1):c.1844C>G (p.Thr615Arg)
NM_024596.5(MCPH1):c.1935+6T>C
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.2078G>T (p.Arg693Leu) rs370011131
NM_024596.5(MCPH1):c.208C>T (p.Leu70Phe)
NM_024596.5(MCPH1):c.2254C>G (p.Arg752Gly) rs373658774
NM_024596.5(MCPH1):c.2256C>G (p.Arg752=) rs35999761
NM_024596.5(MCPH1):c.2257G>A (p.Gly753Arg) rs587783737
NM_024596.5(MCPH1):c.2257G>C (p.Gly753Arg) rs587783737
NM_024596.5(MCPH1):c.2288T>C (p.Phe763Ser) rs587783738
NM_024596.5(MCPH1):c.2400C>A (p.Tyr800Ter) rs7017210
NM_024596.5(MCPH1):c.2429A>G (p.Tyr810Cys) rs35013679
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.355A>G (p.Lys119Glu)
NM_024596.5(MCPH1):c.433C>G (p.Leu145Val) rs139607465
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
NM_024596.5(MCPH1):c.614C>T (p.Pro205Leu) rs587783742

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