ClinVar Miner

List of variants reported as uncertain significance for Left ventricular noncompaction cardiomyopathy by Blueprint Genetics

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965 0.00131
NM_001267550.2(TTN):c.2775+4G>A rs548681281 0.00086
NM_004006.3(DMD):c.1337A>G (p.His446Arg) rs72468699 0.00023
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu) rs151178348 0.00022
NM_001927.4(DES):c.635G>A (p.Arg212Gln) rs144261171 0.00019
NM_000257.4(MYH7):c.5071G>A (p.Val1691Met) rs45464193 0.00011
NM_000257.4(MYH7):c.5287G>A (p.Ala1763Thr) rs727504355 0.00009
NM_001267550.2(TTN):c.17183-7C>T rs371785683 0.00009
NM_003673.4(TCAP):c.448G>A (p.Gly150Ser) rs762850913 0.00009
NM_032578.4(MYPN):c.757G>C (p.Gly253Arg) rs201983087 0.00008
NM_001105206.3(LAMA4):c.1962G>A (p.Ala654=) rs140246538 0.00005
NM_004006.3(DMD):c.8851C>T (p.Arg2951Cys) rs760516307 0.00005
NM_004415.4(DSP):c.4915G>A (p.Val1639Met) rs539587517 0.00004
NM_004415.4(DSP):c.4657G>A (p.Asp1553Asn) rs730880084 0.00002
NM_004415.4(DSP):c.4808G>A (p.Arg1603Lys) rs869025393 0.00002
NM_013266.4(CTNNA3):c.622C>T (p.Arg208Ter) rs755323657 0.00002
NM_000257.4(MYH7):c.532G>A (p.Gly178Arg) rs730880156 0.00001
NM_000335.5(SCN5A):c.5668C>G (p.Pro1890Ala) rs730880208 0.00001
NM_001318895.3(FHL2):c.815G>A (p.Cys272Tyr) rs773266937 0.00001
NM_020433.5(JPH2):c.1540G>A (p.Gly514Ser) rs869025442 0.00001
NM_020433.5(JPH2):c.1750C>A (p.Gln584Lys) rs730880253 0.00001
NM_000257.4(MYH7):c.1396G>A (p.Glu466Lys) rs4981473
NM_000257.4(MYH7):c.3830G>C (p.Arg1277Pro) rs397516195
NM_001018005.2(TPM1):c.14AGA[2] (p.Lys7del) rs730881155
NM_001018005.2(TPM1):c.44A>G (p.Lys15Arg) rs869025539
NM_001103.4(ACTN2):c.2416C>T (p.Gln806Ter) rs772733279
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del) rs573843615
NM_001267550.2(TTN):c.11657del (p.Asp3886fs) rs397517826
NM_001267550.2(TTN):c.40408+8del rs727504922
NM_001276345.2(TNNT2):c.665T>A (p.Leu222Gln) rs750800588
NM_005159.5(ACTC1):c.191G>A (p.Arg64Lys) rs869025353
NM_013266.4(CTNNA3):c.2588del (p.Lys863fs) rs730880073
NM_144573.4(NEXN):c.1589_1590del (p.Arg530fs) rs869025492

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