ClinVar Miner

List of variants in gene TMEM231 reported as likely benign for autosomal recessive disease

Included ClinVar conditions (1196):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 126
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001077416.2(TMEM231):c.12G>A (p.Arg4=) rs115739052 0.01305
NM_001077418.3(TMEM231):c.928T>G (p.Leu310Val) rs182008317 0.00181
NM_001077418.3(TMEM231):c.927C>A (p.Asp309Glu) rs186119649 0.00179
NM_001077418.3(TMEM231):c.-40C>G rs114889548 0.00177
NM_001077418.3(TMEM231):c.470C>T (p.Ala157Val) rs201036290 0.00177
NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr) rs199813223 0.00141
NM_001077418.3(TMEM231):c.719A>G (p.Asp240Gly) rs146210288 0.00138
NM_001077418.3(TMEM231):c.583-20A>T rs375984875 0.00128
NM_001077418.3(TMEM231):c.95C>T (p.Ala32Val) rs201181950 0.00105
NM_001077418.3(TMEM231):c.-15C>T rs138060715 0.00092
NM_001077418.3(TMEM231):c.129C>T (p.Phe43=) rs377440297 0.00058
NM_001077418.3(TMEM231):c.309+13C>A rs146945255 0.00041
NM_001077418.3(TMEM231):c.7C>G (p.Leu3Val) rs371709760 0.00039
NM_001077418.3(TMEM231):c.79C>T (p.Leu27=) rs370607340 0.00026
NM_001077418.3(TMEM231):c.139+42G>A rs375718217 0.00024
NM_001077418.3(TMEM231):c.438+12C>T rs1000442477 0.00019
NM_001077418.3(TMEM231):c.243C>T (p.Leu81=) rs371752653 0.00016
NM_001077418.3(TMEM231):c.749G>A (p.Arg250Gln) rs369010440 0.00014
NM_001077418.3(TMEM231):c.583-9G>A rs371734111 0.00011
NM_001077418.3(TMEM231):c.216G>T (p.Leu72=) rs751840699 0.00009
NM_001077418.3(TMEM231):c.798A>G (p.Val266=) rs772364535 0.00009
NM_001077418.3(TMEM231):c.310-17C>T rs752375895 0.00007
NM_001077418.3(TMEM231):c.624C>T (p.Tyr208=) rs368594302 0.00007
NM_001077418.3(TMEM231):c.870C>T (p.Phe290=) rs541349898 0.00007
NM_001077418.3(TMEM231):c.210G>T (p.Val70=) rs757361739 0.00006
NM_001077418.3(TMEM231):c.663C>T (p.Asn221=) rs776287219 0.00006
NM_001077418.3(TMEM231):c.665-19G>A rs200581224 0.00006
NM_001077418.3(TMEM231):c.672C>T (p.Thr224=) rs769897831 0.00005
NM_001077418.3(TMEM231):c.139+27C>T rs773052053 0.00004
NM_001077418.3(TMEM231):c.240C>T (p.Phe80=) rs760694007 0.00004
NM_001077418.3(TMEM231):c.303C>T (p.Leu101=) rs778118263 0.00004
NM_001077418.3(TMEM231):c.309+12C>A rs561475784 0.00004
NM_001077418.3(TMEM231):c.665-10T>C rs201237881 0.00004
NM_001077418.3(TMEM231):c.759G>A (p.Val253=) rs1020757759 0.00004
NM_001077418.3(TMEM231):c.399C>T (p.Leu133=) rs534627748 0.00003
NM_001077418.3(TMEM231):c.771-4A>C rs199768195 0.00003
NM_001077418.3(TMEM231):c.780A>G (p.Pro260=) rs1412070252 0.00003
NM_001077418.3(TMEM231):c.309+20G>T rs1186787656 0.00002
NM_001077418.3(TMEM231):c.456G>A (p.Val152=) rs571562822 0.00002
NM_001077418.3(TMEM231):c.582+9G>A rs1266194059 0.00002
NM_001077418.3(TMEM231):c.130C>T (p.Arg44Trp) rs750674092 0.00001
NM_001077418.3(TMEM231):c.139+24C>T rs746632596 0.00001
NM_001077418.3(TMEM231):c.139+39G>T rs1448302846 0.00001
NM_001077418.3(TMEM231):c.225C>G (p.Pro75=) rs1444231443 0.00001
NM_001077418.3(TMEM231):c.513C>T (p.Tyr171=) rs751631216 0.00001
NM_001077418.3(TMEM231):c.549G>A (p.Pro183=) rs748111030 0.00001
NM_001077418.3(TMEM231):c.583-10C>T rs774265542 0.00001
NM_001077418.3(TMEM231):c.597C>T (p.Asn199=) rs959165450 0.00001
NM_001077418.3(TMEM231):c.714C>T (p.Ala238=) rs750043051 0.00001
NM_001077418.3(TMEM231):c.770+18G>T rs1413880610 0.00001
NM_001077418.3(TMEM231):c.771-6C>A rs1160382019 0.00001
NM_001077418.3(TMEM231):c.915G>A (p.Thr305=) rs759314500 0.00001
NC_000016.9:g.(?_75573872)_(75579413_?)dup
NC_000016.9:g.(?_75573891)_(75579393_?)dup
NC_000016.9:g.(?_75573892)_(75579403_?)dup
NC_000016.9:g.(?_75573892)_(75579413_?)dup
NM_001077418.3(TMEM231):c.-30C>A rs2080810566
NM_001077418.3(TMEM231):c.139+12C>T rs937269706
NM_001077418.3(TMEM231):c.139+39G>C rs1448302846
NM_001077418.3(TMEM231):c.139+48G>T rs1234390023
NM_001077418.3(TMEM231):c.139+9G>A
NM_001077418.3(TMEM231):c.171G>A (p.Glu57=)
NM_001077418.3(TMEM231):c.177G>A (p.Pro59=)
NM_001077418.3(TMEM231):c.198G>A (p.Gln66=)
NM_001077418.3(TMEM231):c.1A>G (p.Met1Val)
NM_001077418.3(TMEM231):c.202C>T (p.Leu68=) rs781250253
NM_001077418.3(TMEM231):c.204G>C (p.Leu68=)
NM_001077418.3(TMEM231):c.219C>T (p.Leu73=)
NM_001077418.3(TMEM231):c.225C>T (p.Pro75=)
NM_001077418.3(TMEM231):c.234C>T (p.Asp78=)
NM_001077418.3(TMEM231):c.243C>A (p.Leu81=)
NM_001077418.3(TMEM231):c.246C>A (p.Ala82=)
NM_001077418.3(TMEM231):c.255G>T (p.Thr85=) rs2151710642
NM_001077418.3(TMEM231):c.28C>A (p.Pro10Thr)
NM_001077418.3(TMEM231):c.28C>G (p.Pro10Ala)
NM_001077418.3(TMEM231):c.303C>G (p.Leu101=)
NM_001077418.3(TMEM231):c.309+12C>T
NM_001077418.3(TMEM231):c.310-15G>C rs2151703201
NM_001077418.3(TMEM231):c.310-4C>G rs2080685365
NM_001077418.3(TMEM231):c.330C>T (p.Asn110=)
NM_001077418.3(TMEM231):c.345G>A (p.Thr115=)
NM_001077418.3(TMEM231):c.364C>T (p.Leu122=)
NM_001077418.3(TMEM231):c.37C>T (p.Arg13Cys) rs775329522
NM_001077418.3(TMEM231):c.390G>A (p.Glu130=)
NM_001077418.3(TMEM231):c.396T>C (p.Val132=) rs1187444555
NM_001077418.3(TMEM231):c.399C>G (p.Leu133=)
NM_001077418.3(TMEM231):c.415C>T (p.Leu139=)
NM_001077418.3(TMEM231):c.417G>C (p.Leu139=) rs2080683492
NM_001077418.3(TMEM231):c.438+13G>A rs780849828
NM_001077418.3(TMEM231):c.438+13G>T rs780849828
NM_001077418.3(TMEM231):c.439-11A>G
NM_001077418.3(TMEM231):c.439-20G>T
NM_001077418.3(TMEM231):c.453C>T (p.Leu151=)
NM_001077418.3(TMEM231):c.492T>C (p.Pro164=)
NM_001077418.3(TMEM231):c.508T>C (p.Leu170=)
NM_001077418.3(TMEM231):c.510A>G (p.Leu170=) rs1335128278
NM_001077418.3(TMEM231):c.526C>T (p.Leu176=)
NM_001077418.3(TMEM231):c.582+16_582+17delinsGA
NM_001077418.3(TMEM231):c.582+17T>G
NM_001077418.3(TMEM231):c.582+8C>T
NM_001077418.3(TMEM231):c.600G>A (p.Gly200=)
NM_001077418.3(TMEM231):c.665-11T>C rs886039807
NM_001077418.3(TMEM231):c.665-13G>C
NM_001077418.3(TMEM231):c.665-19G>T rs200581224
NM_001077418.3(TMEM231):c.675C>A (p.Val225=)
NM_001077418.3(TMEM231):c.684T>C (p.Asp228=)
NM_001077418.3(TMEM231):c.702G>A (p.Leu234=)
NM_001077418.3(TMEM231):c.70G>A (p.Ala24Thr) rs1344067825
NM_001077418.3(TMEM231):c.711G>A (p.Arg237=)
NM_001077418.3(TMEM231):c.726A>G (p.Pro242=)
NM_001077418.3(TMEM231):c.73C>G (p.Leu25Val) rs951457866
NM_001077418.3(TMEM231):c.744C>T (p.Ile248=)
NM_001077418.3(TMEM231):c.770+20G>A
NM_001077418.3(TMEM231):c.771-17T>G
NM_001077418.3(TMEM231):c.771-4A>G
NM_001077418.3(TMEM231):c.792G>A (p.Glu264=) rs754352443
NM_001077418.3(TMEM231):c.819T>C (p.Tyr273=)
NM_001077418.3(TMEM231):c.852T>C (p.Phe284=)
NM_001077418.3(TMEM231):c.888G>A (p.Val296=)
NM_001077418.3(TMEM231):c.927C>T (p.Asp309=)
NM_001077418.3(TMEM231):c.927_928inv (p.Asp309_Leu310delinsGluVal)
NM_001077418.3(TMEM231):c.930G>A (p.Leu310=) rs1362332031
NM_001077418.3(TMEM231):c.939G>A (p.Glu313=)
NM_001077418.3(TMEM231):c.943T>C (p.Leu315=)
NM_001077418.3(TMEM231):c.94G>A (p.Ala32Thr)
NM_001077418.3(TMEM231):c.97C>G (p.Leu33Val)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.