ClinVar Miner

List of variants reported as pathogenic for autosomal recessive disease by Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_000492.4(CFTR):c.2988+1G>A rs75096551 0.00030
NM_000492.3(CFTR):c.3718-2477C>T rs75039782 0.00011
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg) rs121909005 0.00001
NM_004560.4(ROR2):c.1324C>T (p.Arg442Ter) rs267607016 0.00001
NM_006846.4(SPINK5):c.2557C>T (p.Arg853Ter) rs753621591 0.00001
NM_006907.4(PYCR1):c.356G>A (p.Arg119His) rs121918377 0.00001
NM_012233.3(RAB3GAP1):c.1039C>T (p.Arg347Ter) rs532964185 0.00001
NM_015294.6(TRIM37):c.181C>T (p.Arg61Ter) rs373520509 0.00001
NM_000083.3(CLCN1):c.1282_1285del (p.Phe428fs) rs752041565
NM_000382.3(ALDH3A2):c.837T>G (p.Tyr279Ter)
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.1733_1734del (p.Leu578fs) rs1562907232
NM_001130987.2(DYSF):c.1560del (p.Gly521fs) rs1456182703
NM_001130987.2(DYSF):c.1562del (p.Gly521fs) rs1559109621
NM_001130987.2(DYSF):c.622C>T (p.Gln208Ter) rs1553521017
NM_001136035.4(TRMT1):c.1834-7C>T
NM_001136035.4(TRMT1):c.657_688del (p.Gln219fs) rs746572548
NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del) rs767004810
NM_004560.4(ROR2):c.1504C>T (p.Gln502Ter) rs121909083
NM_005199.5(CHRNG):c.13C>T (p.Gln5Ter) rs267606725
NM_005866.4(SIGMAR1):c.238C>T (p.Gln80Ter) rs1564096221
NM_012233.3(RAB3GAP1):c.1237-2A>G rs1558792168
NM_012233.3(RAB3GAP1):c.2491G>T (p.Glu831Ter) rs1558805900
NM_012463.4(ATP6V0A2):c.294+1G>A rs80356751
NM_014363.6(SACS):c.13454T>C (p.Leu4485Ser) rs1566054340
NM_014363.6(SACS):c.3055A>G (p.Asn1019Asp) rs1566071225
NM_014363.6(SACS):c.4103G>T (p.Ser1368Ile) rs1566069517
NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter) rs766711286
NM_016239.4(MYO15A):c.1171_1177dup (p.Tyr393fs) rs1567620939
NM_016239.4(MYO15A):c.6503T>G (p.Leu2168Arg) rs1567648703
NM_020964.3(EPG5):c.6084G>A (p.Trp2028Ter) rs1568107449
NM_024298.5(MBOAT7):c.604G>C (p.Gly202Arg)
NM_033629.6(TREX1):c.508G>T (p.Glu170Ter) rs768724007
NM_177400.3(NKX6-2):c.487C>G (p.Leu163Val) rs1131692048

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.