ClinVar Miner

Variants in gene ACTN2 with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 46
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HGVS dbSNP gnomAD frequency
NM_001103.4(ACTN2):c.1810A>G (p.Met604Val) rs35997569 0.01914
NM_001103.4(ACTN2):c.1371C>T (p.Arg457=) rs114008185 0.00577
NM_001103.4(ACTN2):c.536+10C>T rs141219516 0.00429
NM_001103.4(ACTN2):c.1341C>T (p.Phe447=) rs34785693 0.00215
NM_001103.4(ACTN2):c.441G>A (p.Ser147=) rs150182164 0.00107
NM_001103.4(ACTN2):c.1383C>T (p.Ile461=) rs34827377 0.00106
NM_001103.4(ACTN2):c.2076C>T (p.Ile692=) rs144122893 0.00097
NM_001103.4(ACTN2):c.1864G>A (p.Asp622Asn) rs138452803 0.00094
NM_001103.4(ACTN2):c.1298C>T (p.Ser433Leu) rs143749154 0.00068
NM_001103.4(ACTN2):c.877-6G>A rs397516585 0.00068
NM_001103.4(ACTN2):c.2649G>A (p.Ala883=) rs146426213 0.00066
NM_001103.4(ACTN2):c.546T>C (p.Asp182=) rs34263845 0.00066
NM_001103.4(ACTN2):c.1452G>A (p.Gln484=) rs200529923 0.00054
NM_001103.4(ACTN2):c.927C>T (p.Pro309=) rs145411160 0.00051
NM_001103.4(ACTN2):c.2367+8A>G rs112714025 0.00048
NM_001103.4(ACTN2):c.893G>A (p.Arg298His) rs142482143 0.00042
NM_001103.4(ACTN2):c.1975-12C>T rs371352710 0.00036
NM_001103.4(ACTN2):c.2601C>T (p.Pro867=) rs147245615 0.00032
NM_001103.4(ACTN2):c.1406+8C>T rs397516567 0.00026
NM_001103.4(ACTN2):c.615+15C>T rs369293885 0.00014
NM_001103.4(ACTN2):c.1974+10C>T rs368354944 0.00011
NM_001103.4(ACTN2):c.2148G>A (p.Thr716=) rs191631773 0.00010
NM_001103.4(ACTN2):c.1292C>T (p.Ser431Leu) rs149846886 0.00009
NM_001103.4(ACTN2):c.165C>T (p.Ala55=) rs193922634 0.00009
NM_001103.4(ACTN2):c.2541G>A (p.Ala847=) rs374278766 0.00008
NM_001103.4(ACTN2):c.1794G>A (p.Pro598=) rs137890030 0.00006
NM_001103.4(ACTN2):c.354C>T (p.Gly118=) rs539250948 0.00006
NM_001103.4(ACTN2):c.744C>T (p.Tyr248=) rs749565466 0.00006
NM_001103.4(ACTN2):c.1485G>A (p.Thr495=) rs201179281 0.00005
NM_001103.4(ACTN2):c.2235A>G (p.Arg745=) rs141884271 0.00004
NM_001103.4(ACTN2):c.2412C>T (p.Asn804=) rs201700660 0.00004
NM_001103.4(ACTN2):c.18C>T (p.Pro6=) rs368367224 0.00003
NM_001103.4(ACTN2):c.2560C>T (p.Leu854=) rs370992948 0.00003
NM_001103.4(ACTN2):c.1425C>T (p.Asp475=) rs148223734 0.00002
NM_001103.4(ACTN2):c.762C>T (p.His254=) rs397516584 0.00002
NM_001103.4(ACTN2):c.1256-13A>T rs778085872 0.00001
NM_001103.4(ACTN2):c.1332C>T (p.His444=) rs373709019 0.00001
NM_001103.4(ACTN2):c.1422C>T (p.His474=) rs1282303942 0.00001
NM_001103.4(ACTN2):c.1693C>T (p.Leu565=) rs546293678 0.00001
NM_001103.4(ACTN2):c.616-3C>T rs111464645 0.00001
NM_001103.4(ACTN2):c.1426G>A (p.Ala476Thr) rs142943120
NM_001103.4(ACTN2):c.1512A>G (p.Leu504=) rs2102934725
NM_001103.4(ACTN2):c.1704G>A (p.Ala568=) rs369560444
NM_001103.4(ACTN2):c.18C>A (p.Pro6=) rs368367224
NM_001103.4(ACTN2):c.1975-6C>G rs201255023
NM_001103.4(ACTN2):c.918C>T (p.Asn306=) rs148646265

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