ClinVar Miner

List of variants in gene MYBPC3 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 55
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.3288G>A (p.Glu1096=) rs1052373 0.38767
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly) rs3729989 0.09621
NM_000256.3(MYBPC3):c.472G>A (p.Val158Met) rs3729986 0.06899
NM_000256.3(MYBPC3):c.2737+12C>T rs3729936 0.03309
NM_000256.3(MYBPC3):c.492C>T (p.Gly164=) rs3218719 0.02170
NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=) rs11570097 0.01438
NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp) rs11570076 0.01409
NM_000256.3(MYBPC3):c.655-18G>A rs113249211 0.00890
NM_000256.3(MYBPC3):c.2498C>T (p.Ala833Val) rs3729952 0.00756
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470 0.00601
NM_000256.3(MYBPC3):c.833G>A (p.Gly278Glu) rs147315081 0.00427
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His) rs201012766 0.00405
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776 0.00376
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112 0.00247
NM_000256.3(MYBPC3):c.3004C>T (p.Arg1002Trp) rs3729799 0.00223
NM_000256.3(MYBPC3):c.2309-27G>A rs150212048 0.00204
NM_000256.3(MYBPC3):c.1458-17C>T rs3729945 0.00203
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile) rs11570052 0.00187
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435 0.00177
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=) rs200224422 0.00176
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr) rs199865688 0.00122
NM_000256.3(MYBPC3):c.1564G>A (p.Ala522Thr) rs11570082 0.00120
NM_000256.3(MYBPC3):c.2914C>T (p.Arg972Trp) rs193922382 0.00096
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380 0.00086
NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr) rs370890951 0.00076
NM_000256.3(MYBPC3):c.3102C>T (p.Ala1034=) rs200663253 0.00058
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114 0.00055
NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser) rs181834806 0.00039
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met) rs200119454 0.00025
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg) rs200625851 0.00024
NM_000256.3(MYBPC3):c.3228C>T (p.Asp1076=) rs369999866 0.00022
NM_000256.3(MYBPC3):c.3285G>A (p.Thr1095=) rs367927327 0.00019
NM_000256.3(MYBPC3):c.772+9G>T rs566339669 0.00013
NM_000256.3(MYBPC3):c.2614G>A (p.Glu872Lys) rs190765116 0.00012
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050 0.00011
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00010
NM_000256.3(MYBPC3):c.851+18C>T rs377287239 0.00009
NM_000256.3(MYBPC3):c.2882C>T (p.Pro961Leu) rs373056282 0.00008
NM_000256.3(MYBPC3):c.1243A>C (p.Ile415Leu) rs1269517446 0.00003
NM_000256.3(MYBPC3):c.2211G>A (p.Thr737=) rs113265977 0.00003
NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs) rs397515963 0.00002
NM_000256.3(MYBPC3):c.2682G>T (p.Glu894Asp) rs369289966 0.00002
NM_000256.3(MYBPC3):c.2573G>A (p.Ser858Asn) rs727503185 0.00001
NM_000256.3(MYBPC3):c.2849C>A (p.Ala950Glu) rs730880577 0.00001
NM_000256.3(MYBPC3):c.3223A>G (p.Thr1075Ala) rs767927162 0.00001
NM_000256.3(MYBPC3):c.3763G>A (p.Ala1255Thr) rs727503167 0.00001
NM_000256.3(MYBPC3):c.2149-1G>A rs727504334
NM_000256.3(MYBPC3):c.2618C>A (p.Pro873His) rs371401403
NM_000256.3(MYBPC3):c.2709_2719del (p.Tyr904fs) rs730880657
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup) rs193922384
NM_000256.3(MYBPC3):c.3764CCA[1] (p.Thr1256del) rs397516040
NM_000256.3(MYBPC3):c.3815-14C>T rs1003286810
NM_000256.3(MYBPC3):c.506-12del rs11570050
NM_000256.3(MYBPC3):c.709T>C (p.Tyr237His) rs730880624
NM_000256.3(MYBPC3):c.772+1G>A rs397516072

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.