ClinVar Miner

List of variants studied for hypertrophic cardiomyopathy by Cohesion Phenomics

Included ClinVar conditions (244):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_001276345.2(TNNT2):c.348C>T (p.Ile116=) rs3729547 0.69444
NM_002294.3(LAMP2):c.156A>T (p.Val52=) rs12097 0.39324
NM_000257.4(MYH7):c.4520-63G>A rs3729825 0.19597
NM_000169.3(GLA):c.640-16A>G rs2071397 0.12447
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly) rs3729989 0.09621
NM_000256.3(MYBPC3):c.786C>T (p.Thr262=) rs11570058 0.08958
NM_001276345.2(TNNT2):c.237G>A (p.Ser79=) rs3729845 0.08311
NM_000363.5(TNNI3):c.150+13G>A rs73617692 0.07353
NM_000256.3(MYBPC3):c.472G>A (p.Val158Met) rs3729986 0.06899
NM_000257.4(MYH7):c.1062C>T (p.Gly354=) rs735712 0.06133
NM_000371.4(TTR):c.76G>A (p.Gly26Ser) rs1800458 0.05309
NM_001018005.2(TPM1):c.486T>C (p.Tyr162=) rs11558747 0.05001
NM_000256.3(MYBPC3):c.2308+18C>G rs3729948 0.04984
NM_016203.4(PRKAG2):c.114+12C>T rs77902041 0.04935
NM_000363.5(TNNI3):c.204G>T (p.Arg68=) rs3729711 0.04033
NM_000256.3(MYBPC3):c.537C>T (p.Ala179=) rs11570051 0.03962
NM_016203.4(PRKAG2):c.1623T>C (p.Ile541=) rs28763998 0.03936
NM_000363.5(TNNI3):c.198G>A (p.Glu66=) rs3729710 0.03372
NM_000256.3(MYBPC3):c.2737+12C>T rs3729936 0.03309
NM_002294.3(LAMP2):c.927C>T (p.Ser309=) rs73219144 0.02702
NM_005159.5(ACTC1):c.927T>C (p.Pro309=) rs2307493 0.02473
NM_000257.4(MYH7):c.895+17G>A rs45580436 0.02377
NM_016203.4(PRKAG2):c.59G>T (p.Ser20Ile) rs116605521 0.02188
NM_000256.3(MYBPC3):c.492C>T (p.Gly164=) rs3218719 0.02170
NM_000258.3(MYL3):c.69C>T (p.Pro23=) rs2233264 0.02058
NM_000257.4(MYH7):c.975C>T (p.Asp325=) rs2231124 0.01865
NM_000257.4(MYH7):c.4353+17G>A rs45581933 0.01445
NM_000257.4(MYH7):c.4716C>T (p.Ile1572=) rs7140196 0.01445
NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=) rs11570097 0.01438
NM_000257.4(MYH7):c.1002C>T (p.Asn334=) rs34803781 0.01418
NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp) rs11570076 0.01409
NM_000257.4(MYH7):c.1767C>T (p.Asn589=) rs3729816 0.01311
NM_001276345.2(TNNT2):c.42-20G>A rs45561443 0.01192
NM_000257.4(MYH7):c.3972+15C>T rs3729820 0.01159
NM_001276345.2(TNNT2):c.294+7G>A rs45490292 0.01066
NM_000256.3(MYBPC3):c.655-18G>A rs113249211 0.00890
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823 0.00861
NM_000257.4(MYH7):c.597A>G (p.Ala199=) rs2069541 0.00853
NM_000257.4(MYH7):c.4566T>C (p.Thr1522=) rs2754155 0.00831
NM_001276345.2(TNNT2):c.474G>C (p.Arg158=) rs35914325 0.00788
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_000432.4(MYL2):c.381G>A (p.Ala127=) rs2233261 0.00558
NM_016203.4(PRKAG2):c.639C>T (p.Thr213=) rs140001300 0.00493
NM_000257.4(MYH7):c.1579-17C>T rs182949516 0.00470
NM_000257.4(MYH7):c.3864C>G (p.Ser1288=) rs45501694 0.00469
NM_000256.3(MYBPC3):c.833G>A (p.Gly278Glu) rs147315081 0.00427
NM_002294.3(LAMP2):c.1093+2514G>A rs144140265 0.00404
NM_000432.4(MYL2):c.170-19T>C rs115522476 0.00399
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776 0.00376
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00308
NM_000257.4(MYH7):c.4788G>A (p.Ser1596=) rs146858930 0.00277
NM_000257.4(MYH7):c.2162+4G>A rs145738465 0.00276
NM_000257.4(MYH7):c.4452C>T (p.Leu1484=) rs61737803 0.00275
NM_000257.4(MYH7):c.4353+10G>A rs202205780 0.00274
NM_001018005.2(TPM1):c.180C>T (p.Tyr60=) rs17850194 0.00273
NM_016203.4(PRKAG2):c.111T>A (p.Ile37=) rs144426409 0.00259
NM_005159.5(ACTC1):c.454+9G>A rs148695567 0.00245
NM_000363.5(TNNI3):c.373-15C>G rs192630178 0.00141
NM_000256.3(MYBPC3):c.2914C>T (p.Arg972Trp) rs193922382 0.00096
NM_000256.3(MYBPC3):c.646G>A (p.Ala216Thr) rs201098973 0.00076
NM_000256.3(MYBPC3):c.649A>G (p.Ser217Gly) rs138753870 0.00076
NM_000257.4(MYH7):c.3777C>T (p.His1259=) rs149103761 0.00054
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His) rs202139499 0.00017
NM_000256.3(MYBPC3):c.772+9G>T rs566339669 0.00013
NM_000169.3(GLA):c.48T>G (p.Leu16=) rs201449986 0.00011
NM_000257.4(MYH7):c.1407T>C (p.Asp469=) rs112172952 0.00008
NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser) rs727503244 0.00006
NM_016203.4(PRKAG2):c.1051+20T>C rs748641955 0.00006
NM_000257.4(MYH7):c.1332T>C (p.Asn444=) rs397516099 0.00004
NM_000363.5(TNNI3):c.372+7C>T rs367809676 0.00004
NM_000256.3(MYBPC3):c.3414C>T (p.Arg1138=) rs753671465 0.00002
NM_002294.3(LAMP2):c.557-12C>T rs756269189 0.00002
NM_000257.4(MYH7):c.1301G>A (p.Arg434Lys) rs786205356 0.00001
NM_000432.4(MYL2):c.169+13C>T rs367740411 0.00001
NM_000257.4(MYH7):c.3315G>A (p.Gln1105=)
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000257.4(MYH7):c.3715A>G (p.Ile1239Val) rs1114167342
NM_000257.4(MYH7):c.5451G>A (p.Ala1817=) rs138682220
NM_001018005.2(TPM1):c.639+13del rs397516488
NM_001276345.2(TNNT2):c.163+12G>T rs45580032
NM_001276345.2(TNNT2):c.237G>T (p.Ser79=) rs3729845

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