ClinVar Miner

List of variants in gene SMCHD1 studied for reproductive system disorder

Included ClinVar conditions (670):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 43
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015295.3(SMCHD1):c.4967-15G>T rs300291 0.98262
NM_015295.3(SMCHD1):c.2122G>A (p.Val708Ile) rs2276092 0.71166
NM_015295.3(SMCHD1):c.1851A>G (p.Thr617=) rs635132 0.60549
NM_015295.3(SMCHD1):c.3425+37C>T rs8094260 0.33927
NM_015295.3(SMCHD1):c.1843-17T>A rs8090988 0.32584
NM_015295.3(SMCHD1):c.3528A>G (p.Thr1176=) rs12327477 0.28781
NM_015295.3(SMCHD1):c.4137A>G (p.Ala1379=) rs2304859 0.28776
NM_015295.3(SMCHD1):c.3277-42_3277-39dup rs10638660 0.28675
NM_015295.3(SMCHD1):c.5476+10A>G rs3213926 0.28248
NM_015295.3(SMCHD1):c.5548-43_5548-40del rs35853884 0.24521
NM_015295.3(SMCHD1):c.2338+32A>G rs62084229 0.19102
NM_015295.3(SMCHD1):c.4808C>T (p.Thr1603Ile) rs147034750 0.00303
NM_015295.3(SMCHD1):c.1132-14C>T rs184510956 0.00053
NM_015295.3(SMCHD1):c.3527C>T (p.Thr1176Ile) rs553452960 0.00025
NM_015295.3(SMCHD1):c.4316A>G (p.Asn1439Ser) rs767898877 0.00001
NM_015295.3(SMCHD1):c.5798T>A (p.Leu1933His) rs1405560459 0.00001
NM_015295.3(SMCHD1):c.1034A>G (p.Gln345Arg) rs1057519639
NM_015295.3(SMCHD1):c.1043A>G (p.His348Arg) rs1057519640
NM_015295.3(SMCHD1):c.1199A>T (p.Gln400Leu) rs1057519642
NM_015295.3(SMCHD1):c.1259A>T (p.Asp420Val) rs1135402742
NM_015295.3(SMCHD1):c.1417G>C (p.Glu473Gln) rs1135402743
NM_015295.3(SMCHD1):c.1504C>G (p.Pro502Ala) rs1355109257
NM_015295.3(SMCHD1):c.1568C>A (p.Thr523Lys) rs1135402744
NM_015295.3(SMCHD1):c.1571A>G (p.Asn524Ser) rs1135402745
NM_015295.3(SMCHD1):c.1655G>A (p.Arg552Gln) rs886042392
NM_015295.3(SMCHD1):c.2972G>A (p.Ser991Asn) rs2075090484
NM_015295.3(SMCHD1):c.320T>C (p.Leu107Pro) rs1135402737
NM_015295.3(SMCHD1):c.3527_3528inv (p.Thr1176Met)
NM_015295.3(SMCHD1):c.386T>A (p.Met129Lys) rs1135402738
NM_015295.3(SMCHD1):c.403A>T (p.Ser135Cys) rs1057519645
NM_015295.3(SMCHD1):c.404G>A (p.Ser135Asn) rs1057519646
NM_015295.3(SMCHD1):c.404G>T (p.Ser135Ile) rs1057519646
NM_015295.3(SMCHD1):c.408A>C (p.Glu136Asp) rs1057519643
NM_015295.3(SMCHD1):c.410G>A (p.Gly137Glu) rs1057519644
NM_015295.3(SMCHD1):c.415A>C (p.Asn139His) rs1135402739
NM_015295.3(SMCHD1):c.423G>C (p.Leu141Phe) rs1057519641
NM_015295.3(SMCHD1):c.423G>T (p.Leu141Phe) rs1057519641
NM_015295.3(SMCHD1):c.4823T>G (p.Ile1608Ser) rs2075942900
NM_015295.3(SMCHD1):c.5052+33dup rs3214732
NM_015295.3(SMCHD1):c.511T>G (p.Phe171Val) rs1135402740
NM_015295.3(SMCHD1):c.5572A>G (p.Thr1858Ala)
NM_015295.3(SMCHD1):c.5912T>G (p.Leu1971Trp)
NM_015295.3(SMCHD1):c.725C>G (p.Ala242Gly) rs1135402741

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.