ClinVar Miner

List of variants studied for hypertrophic cardiomyopathy by New York Genome Center

Included ClinVar conditions (244):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 176
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.18172C>T (p.Arg6058Cys) rs189127014 0.00053
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_001267550.2(TTN):c.7523A>G (p.His2508Arg) rs146970027 0.00041
NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys) rs151254520 0.00038
NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys) rs200503016 0.00019
NM_001267550.2(TTN):c.50212G>A (p.Glu16738Lys) rs148018042 0.00017
NM_001267550.2(TTN):c.92696T>C (p.Ile30899Thr) rs373727636 0.00016
NM_001267550.2(TTN):c.14869A>C (p.Thr4957Pro) rs780405420 0.00015
NM_001267550.2(TTN):c.75490G>A (p.Asp25164Asn) rs192468365 0.00014
NM_001267550.2(TTN):c.57242T>C (p.Ile19081Thr) rs78509062 0.00012
NM_001267550.2(TTN):c.76673A>T (p.Asp25558Val) rs201095164 0.00011
NM_001267550.2(TTN):c.4150G>T (p.Ala1384Ser) rs144609506 0.00010
NM_001267550.2(TTN):c.5314A>G (p.Ser1772Gly) rs150725992 0.00009
NM_014000.3(VCL):c.1490T>C (p.Ile497Thr) rs572757800 0.00008
NM_001267550.2(TTN):c.33340+5A>C rs373367032 0.00007
NM_002471.4(MYH6):c.1244G>C (p.Gly415Ala) rs759520932 0.00007
NM_000257.4(MYH7):c.5326A>G (p.Ser1776Gly) rs369437262 0.00006
NM_001267550.2(TTN):c.55435G>A (p.Val18479Ile) rs559712998 0.00006
NM_001267550.2(TTN):c.83978C>A (p.Thr27993Asn) rs377614000 0.00006
NM_002880.4(RAF1):c.1814C>T (p.Ser605Phe) rs730881004 0.00006
NM_032578.4(MYPN):c.1130+3A>C rs770005365 0.00006
NM_001267550.2(TTN):c.15148G>T (p.Gly5050Trp) rs908686601 0.00005
NM_001267550.2(TTN):c.59926C>T (p.His19976Tyr) rs727503588 0.00005
NM_001267550.2(TTN):c.71699G>A (p.Arg23900Gln) rs369292052 0.00005
NM_001267550.2(TTN):c.89711G>A (p.Arg29904His) rs397517744 0.00005
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074 0.00004
NM_000256.3(MYBPC3):c.787G>A (p.Gly263Arg) rs373730381 0.00004
NM_001267550.2(TTN):c.94507G>A (p.Ala31503Thr) rs375657115 0.00004
NM_001267550.2(TTN):c.99310C>T (p.Arg33104Cys) rs766169253 0.00004
NM_006767.4(LZTR1):c.1978G>A (p.Glu660Lys) rs151000791 0.00004
NM_000182.5(HADHA):c.1793_1794del (p.His598fs) rs769580842 0.00003
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys) rs2754158 0.00003
NM_001267550.2(TTN):c.40723+1G>T rs371770198 0.00003
NM_001267550.2(TTN):c.65410T>C (p.Trp21804Arg) rs745626132 0.00003
NM_001267550.2(TTN):c.78323A>G (p.Gln26108Arg) rs370963021 0.00003
NM_001458.5(FLNC):c.6779A>G (p.Lys2260Arg) rs751019991 0.00003
NM_005633.4(SOS1):c.3806C>G (p.Thr1269Arg) rs370528448 0.00003
NM_014000.3(VCL):c.2006G>A (p.Arg669Gln) rs759771302 0.00003
NM_000256.3(MYBPC3):c.26-2A>G rs376395543 0.00002
NM_000257.4(MYH7):c.3037G>A (p.Glu1013Lys) rs730880764 0.00002
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu) rs730881151 0.00002
NM_001122630.2(CDKN1C):c.542C>G (p.Pro181Arg) rs1377428359 0.00002
NM_001267550.2(TTN):c.102761T>C (p.Leu34254Pro) rs556155561 0.00002
NM_001267550.2(TTN):c.35470+4T>C rs1389073196 0.00002
NM_002667.5(PLN):c.116T>G (p.Leu39Ter) rs111033560 0.00002
NM_014000.3(VCL):c.1814C>G (p.Pro605Arg) rs960761223 0.00002
NM_016203.4(PRKAG2):c.1432G>A (p.Val478Ile) rs778668093 0.00002
NC_000011.10:g.47335082_47335083del rs397515990 0.00001
NM_000257.4(MYH7):c.221A>G (p.Asp74Gly) rs730880831 0.00001
NM_000363.5(TNNI3):c.108+4G>T rs878853954 0.00001
NM_001267550.2(TTN):c.102274C>T (p.Arg34092Cys) rs765435004 0.00001
NM_001267550.2(TTN):c.11282T>C (p.Ile3761Thr) rs758073208 0.00001
NM_001267550.2(TTN):c.13205C>T (p.Ala4402Val) rs756976503 0.00001
NM_001267550.2(TTN):c.37433C>T (p.Pro12478Leu) rs1302865780 0.00001
NM_001267550.2(TTN):c.41423G>A (p.Arg13808His) rs764850788 0.00001
NM_001267550.2(TTN):c.42714T>A (p.His14238Gln) rs1438979717 0.00001
NM_001267550.2(TTN):c.54418C>T (p.Arg18140Ter) rs747236787 0.00001
NM_001267550.2(TTN):c.55660C>T (p.Arg18554Ter) rs1483931960 0.00001
NM_001267550.2(TTN):c.60524C>T (p.Pro20175Leu) rs771358314 0.00001
NM_001267550.2(TTN):c.67348+1G>A rs758279518 0.00001
NM_001267550.2(TTN):c.69420del (p.Gly23141fs) rs1330960948 0.00001
NM_001267550.2(TTN):c.70013G>A (p.Arg23338Gln) rs78916558 0.00001
NM_001267550.2(TTN):c.725A>G (p.Asp242Gly) rs773021696 0.00001
NM_001267550.2(TTN):c.72713C>T (p.Ser24238Leu) rs786205303 0.00001
NM_001267550.2(TTN):c.94855C>T (p.Arg31619Ter) rs869312121 0.00001
NM_001276345.2(TNNT2):c.136G>C (p.Ala46Pro) rs397516447 0.00001
NM_001458.5(FLNC):c.2081C>T (p.Ala694Val) rs1315847764 0.00001
NM_001458.5(FLNC):c.2811+5G>A rs781538211 0.00001
NM_001458.5(FLNC):c.3791-1G>C rs781135153 0.00001
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) rs121913237 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_006767.4(LZTR1):c.2407-2A>G rs1158550690 0.00001
NM_006912.6(RIT1):c.163+6C>A rs1157450415 0.00001
NM_006939.4(SOS2):c.1732A>G (p.Lys578Glu) rs748480687 0.00001
NM_006939.4(SOS2):c.2290A>G (p.Ser764Gly) rs779464455 0.00001
NM_007078.3(LDB3):c.550A>G (p.Lys184Glu) rs774886148 0.00001
NM_007373.4(SHOC2):c.733G>A (p.Val245Ile) rs761636280 0.00001
NM_020433.5(JPH2):c.655G>T (p.Gly219Cys) rs1251565277 0.00001
NM_020778.5(ALPK3):c.1765G>A (p.Asp589Asn) rs146892833 0.00001
NM_152594.3(SPRED1):c.1301G>T (p.Gly434Val) rs746414913 0.00001
NM_152594.3(SPRED1):c.32A>T (p.Asp11Val) rs1452661347 0.00001
NM_152594.3(SPRED1):c.6C>A (p.Ser2Arg) rs775693385 0.00001
NC_000003.12:g.12589035_12766981dup
NM_000256.3(MYBPC3):c.1800delA rs397515926
NM_000256.3(MYBPC3):c.1927+600C>T rs1595845204
NM_000256.3(MYBPC3):c.1999_2000delinsG (p.Leu667fs) rs727503192
NM_000256.3(MYBPC3):c.2729del (p.Pro910fs)
NM_000257.4(MYH7):c.5494C>T (p.Arg1832Cys) rs201865159
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly) rs139794067
NM_000363.5(TNNI3):c.407G>A (p.Arg136Gln) rs730881069
NM_001018005.2(TPM1):c.563+53C>G
NM_001122630.2(CDKN1C):c.174G>A (p.Met58Ile) rs2133785866
NM_001267550.2(TTN):c.100397G>A (p.Arg33466His) rs189626540
NM_001267550.2(TTN):c.102455A>G (p.His34152Arg)
NM_001267550.2(TTN):c.106572G>T (p.Lys35524Asn)
NM_001267550.2(TTN):c.12151G>T (p.Asp4051Tyr)
NM_001267550.2(TTN):c.16985G>A (p.Gly5662Asp)
NM_001267550.2(TTN):c.1863A>C (p.Lys621Asn)
NM_001267550.2(TTN):c.19655C>T (p.Thr6552Ile)
NM_001267550.2(TTN):c.19993+6C>T
NM_001267550.2(TTN):c.22496C>T (p.Thr7499Ile)
NM_001267550.2(TTN):c.23329A>G (p.Thr7777Ala)
NM_001267550.2(TTN):c.26333G>C (p.Arg8778Thr)
NM_001267550.2(TTN):c.26653T>G (p.Ser8885Ala)
NM_001267550.2(TTN):c.29285C>T (p.Thr9762Ile)
NM_001267550.2(TTN):c.33277G>A (p.Glu11093Lys)
NM_001267550.2(TTN):c.3476G>T (p.Arg1159Leu) rs149883066
NM_001267550.2(TTN):c.35224A>G (p.Lys11742Glu)
NM_001267550.2(TTN):c.35363A>G (p.Glu11788Gly)
NM_001267550.2(TTN):c.36267_36280+16del rs745871962
NM_001267550.2(TTN):c.38488G>A (p.Ala12830Thr)
NM_001267550.2(TTN):c.38918C>G (p.Pro12973Arg)
NM_001267550.2(TTN):c.40761_40766del (p.Glu13588_Pro13589del)
NM_001267550.2(TTN):c.41002CCT[1] (p.Pro13669del) rs747793660
NM_001267550.2(TTN):c.42439C>T (p.Pro14147Ser) rs1559970037
NM_001267550.2(TTN):c.43156G>A (p.Gly14386Arg)
NM_001267550.2(TTN):c.44053G>A (p.Glu14685Lys)
NM_001267550.2(TTN):c.50869A>G (p.Ile16957Val) rs372013419
NM_001267550.2(TTN):c.52405+4A>G
NM_001267550.2(TTN):c.53741A>C (p.Lys17914Thr)
NM_001267550.2(TTN):c.628A>G (p.Thr210Ala)
NM_001267550.2(TTN):c.64906G>C (p.Ala21636Pro)
NM_001267550.2(TTN):c.71266G>A (p.Gly23756Ser)
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.72988C>T (p.Pro24330Ser)
NM_001267550.2(TTN):c.74609C>T (p.Ala24870Val)
NM_001267550.2(TTN):c.80294T>C (p.Val26765Ala)
NM_001267550.2(TTN):c.81905A>G (p.Lys27302Arg) rs2154162241
NM_001267550.2(TTN):c.82682T>C (p.Phe27561Ser)
NM_001267550.2(TTN):c.85969A>T (p.Lys28657Ter) rs72648224
NM_001267550.2(TTN):c.86729AAG[1] (p.Glu28911del) rs727504797
NM_001267550.2(TTN):c.88379T>C (p.Leu29460Pro)
NM_001267550.2(TTN):c.89047G>A (p.Val29683Ile)
NM_001267550.2(TTN):c.89136C>A (p.Asn29712Lys)
NM_001267550.2(TTN):c.89993C>A (p.Ser29998Ter) rs376543931
NM_001267550.2(TTN):c.91583T>G (p.Phe30528Cys)
NM_001267550.2(TTN):c.94520T>C (p.Val31507Ala)
NM_001267550.2(TTN):c.96235G>C (p.Asp32079His) rs200540781
NM_001267550.2(TTN):c.98810_98811del (p.Lys32937fs)
NM_001276345.2(TNNT2):c.430C>T (p.Arg144Trp) rs45525839
NM_001281740.3(FHOD3):c.1097C>T (p.Ser366Leu)
NM_001281740.3(FHOD3):c.1912C>T (p.Arg638Trp)
NM_001281740.3(FHOD3):c.928G>A (p.Asp310Asn)
NM_001458.5(FLNC):c.4021C>T (p.Arg1341Ter) rs1562998062
NM_001458.5(FLNC):c.5194G>A (p.Val1732Met) rs374848954
NM_002471.4(MYH6):c.-46-40G>A
NM_002471.4(MYH6):c.5803dup (p.Met1935fs) rs768525215
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala) rs397507501
NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro) rs397507548
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn) rs397507510
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002880.4(RAF1):c.1922C>G (p.Thr641Arg) rs587777587
NM_002880.4(RAF1):c.325_327del (p.Lys109del) rs1418886913
NM_003673.4(TCAP):c.394G>C (p.Glu132Gln)
NM_004333.6(BRAF):c.1190G>A (p.Gly397Asp) rs1554400237
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004959.5(NR5A1):c.841C>T (p.Arg281Cys)
NM_004985.5(KRAS):c.58A>G (p.Thr20Ala) rs2135806003
NM_004999.4(MYO6):c.917T>C (p.Met306Thr) rs2150278897
NM_005343.4(HRAS):c.-54+3G>A
NM_005633.4(SOS1):c.1074+1966C>G rs2124558711
NM_005633.4(SOS1):c.2930A>G (p.Gln977Arg) rs2124479522
NM_005633.4(SOS1):c.541G>A (p.Glu181Lys) rs1671148501
NM_005633.4(SOS1):c.743G>T (p.Arg248Leu) rs775052125
NM_006767.4(LZTR1):c.438dup (p.Lys147fs) rs2147961992
NM_006767.4(LZTR1):c.895_898del (p.Phe299fs) rs1924613524
NM_006939.4(SOS2):c.*234G>A rs2139461520
NM_006939.4(SOS2):c.164T>C (p.Leu55Pro) rs2139796125
NM_006939.4(SOS2):c.545G>T (p.Gly182Val) rs149487643
NM_007078.3(LDB3):c.1231+949C>T
NM_007078.3(LDB3):c.1978+1184G>A rs2132490081
NM_014000.3(VCL):c.1343T>C (p.Leu448Pro)
NM_014000.3(VCL):c.1360G>A (p.Gly454Arg)
NM_014000.3(VCL):c.1379G>C (p.Arg460Pro)
NM_016203.4(PRKAG2):c.147C>A (p.Asp49Glu) rs761196275
NM_032578.4(MYPN):c.2863C>T (p.Arg955Trp) rs149887823

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